- Mar 2021
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 0.6
AssayResultAssertion: Abnormal
StandardErrorMean: 0.15
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 0.6
AssayResultAssertion: Abnormal
StandardErrorMean: 0.07
Comment: This variant was reported as c.2145_2146delT p.(Asp715Glufs2), however the numbering implies the deletion of two nucleotides. The deletion of TA, c.2145_2146delTA, gives the reported protein change (p.(Asp715Glufs2), and was assumed to be the intended variant. Use this evidence with caution.
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 0.8
AssayResultAssertion: Abnormal
StandardErrorMean: 0.14
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 0.8
AssayResultAssertion: Abnormal
StandardErrorMean: 0.13
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 1
AssayResultAssertion: Abnormal
StandardErrorMean: 0
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 1.5
AssayResultAssertion: Abnormal
StandardErrorMean: 0.16
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 1.7
AssayResultAssertion: Abnormal
StandardErrorMean: 0.34
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 1.7
AssayResultAssertion: Abnormal
StandardErrorMean: 0.84
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 2.4
AssayResultAssertion: Abnormal
StandardErrorMean: 0.22
Comment: This variant is reported as a potential hypomorphic variant.
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 3
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.32
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 3.6
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.28
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 3.6
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.01
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 3.6
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.11
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 3.7
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.13
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 3.8
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.18
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 3.9
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.04
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.1
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.32
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.07
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.16
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.1
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.56
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.02
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.21
Comment: This variant was reported as c.398C>G p.(Ser133Thr), however the given allele from reference sequence is incorrect and does not match the actual sequence at the given position. The opposite nucleotide change, c.398G>C, gives the reported protein change (p.(Ser133Thr)), and was assumed to be the intended variant. Use this evidence with caution.
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.02
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.4
AssayResultAssertion: Indeterminate
StandardErrorMean: 0.09
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.4
AssayResultAssertion: Normal
StandardErrorMean: 0.39
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.5
AssayResultAssertion: Normal
StandardErrorMean: 0.23
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.5
AssayResultAssertion: Normal
StandardErrorMean: 0.16
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.6
AssayResultAssertion: Normal
StandardErrorMean: 0.09
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.6
AssayResultAssertion: Normal
StandardErrorMean: 0.57
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.6
AssayResultAssertion: Normal
StandardErrorMean: 0.57
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.6
AssayResultAssertion: Normal
StandardErrorMean: 0.32
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.7
AssayResultAssertion: Normal
StandardErrorMean: 0.13
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.7
AssayResultAssertion: Normal
StandardErrorMean: 0.32
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.7
AssayResultAssertion: Normal
StandardErrorMean: 0.1
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.7
AssayResultAssertion: Normal
StandardErrorMean: 0.1
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.7
AssayResultAssertion: Normal
StandardErrorMean: 0.92
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.7
AssayResultAssertion: Normal
StandardErrorMean: 0.06
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.7
AssayResultAssertion: Normal
StandardErrorMean: 0.11
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.8
AssayResultAssertion: Normal
StandardErrorMean: 0.23
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.8
AssayResultAssertion: Normal
StandardErrorMean: 0.79
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.8
AssayResultAssertion: Normal
StandardErrorMean: 0.24
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.8
AssayResultAssertion: Normal
StandardErrorMean: 0.67
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.29
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.93
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.44
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.71
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.01
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.08
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.04
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.49
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.57
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.27
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.32
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.9
AssayResultAssertion: Normal
StandardErrorMean: 0.1
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 0.6
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 0.08
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 0.15
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 1.01
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 0.58
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 0.32
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5
AssayResultAssertion: Normal
StandardErrorMean: 1.21
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.1
AssayResultAssertion: Normal
StandardErrorMean: 0.56
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.1
AssayResultAssertion: Normal
StandardErrorMean: 0.7
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.1
AssayResultAssertion: Normal
StandardErrorMean: 1
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.2
AssayResultAssertion: Normal
StandardErrorMean: 0.39
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.2
AssayResultAssertion: Normal
StandardErrorMean: 0.1
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.2
AssayResultAssertion: Normal
StandardErrorMean: 0.33
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.2
AssayResultAssertion: Normal
StandardErrorMean: 0.7
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.3
AssayResultAssertion: Normal
StandardErrorMean: 0.84
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.3
AssayResultAssertion: Normal
StandardErrorMean: 0.46
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.4
AssayResultAssertion: Normal
StandardErrorMean: 0.13
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.6
AssayResultAssertion: Normal
StandardErrorMean: 0.16
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.8
AssayResultAssertion: Normal
StandardErrorMean: 1.15
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 5.8
AssayResultAssertion: Normal
StandardErrorMean: 0.1
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6
AssayResultAssertion: Normal
StandardErrorMean: 0.13
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6.2
AssayResultAssertion: Normal
StandardErrorMean: 1.39
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6.4
AssayResultAssertion: Normal
StandardErrorMean: 0.45
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6.4
AssayResultAssertion: Normal
StandardErrorMean: 0.96
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6.5
AssayResultAssertion: Normal
StandardErrorMean: 1.55
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6.6
AssayResultAssertion: Normal
StandardErrorMean: 0.05
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6.6
AssayResultAssertion: Normal
StandardErrorMean: 0.8
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 6.9
AssayResultAssertion: Normal
StandardErrorMean: 0.35
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 7.1
AssayResultAssertion: Normal
StandardErrorMean: 0.43
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 7.2
AssayResultAssertion: Normal
StandardErrorMean: 0.01
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 7.3
AssayResultAssertion: Normal
StandardErrorMean: 0.08
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 7.5
AssayResultAssertion: Normal
StandardErrorMean: 0.61
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 7.7
AssayResultAssertion: Normal
StandardErrorMean: 0.15
-
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 7.7
AssayResultAssertion: Normal
StandardErrorMean: 0.15
-
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.100C>T p.(Arg34Cys)
Tags
- Variant:73
- CAID:CA191059
- Variant:10
- CAID:CA161336
- CAID:CA269622
- ClinVarID:141974
- CAID:CA10579994
- ClinVarID:233127
- Variant:16
- Variant:63
- Variant:19
- ClinVarID:126782
- ClinVarID:186939
- Variant:74
- CAID:CA7963617
- CAID:CA190922
- ClinVarID:128138
- Variant:75
- Variant:3
- CAID:CA16620143
- CAID:CA10580016
- Variant:79
- Variant:35
- Variant:72
- ClinVarID:232317
- ClinVarID:216752
- ValidationControl:Pathogenic
- CAID:CA161327
- CAID:CA167348
- Variant:15
- ClinVarID:185273
- CAID:CA333921
- CAID:CA288488
- CAID:CA288475
- ClinVarID:126741
- CAID:CA191499
- CAID:CA299737
- ClinVarID:126699
- CAID:CA168501
- Variant:67
- ClinVarID:126780
- CGType:FunctionalAssayResult
- ClinVarID:1243
- ClinVarID:230588
- Variant:59
- CAID:CA196017
- CAID:CA288451
- ClinVarID:126683
- Variant:44
- Variant:83
- ClinVarID:126774
- Variant:89
- Variant:78
- Variant:12
- Variant:38
- CAID:CA395139751
- Variant:61
- ClinVarID:225856
- CAID:CA251717
- CAID:CA299750
- Variant:33
- Variant:46
- CAID:CA197176
- CAID:CA269522
- CAID:CA288386
- CAID:CA10583375
- CAID:CA269636
- Variant:51
- CAID:CA294144
- Variant:20
- Variant:57
- CAID:CA163734
- CAID:CA288441
- Variant:88
- Variant:25
- Variant:32
- ClinVarID:241553
- CAID:CA395139263
- Variant:54
- Variant:70
- ClinVarID:241550
- ClinVarID:126630
- ClinVarID:241560
- CAID:CA193659
- CAID:CA269666
- ClinVarID:142048
- ClinVarID:141256
- Variant:1
- Variant:18
- Variant:64
- CAID:CA190537
- ClinVarID:419370
- Variant:69
- ClinVarID:186029
- CAID:CA151233
- Variant:86
- ClinVarID:126594
- CAID:CA151242
- ClinVarID:126761
- ClinVarID:182770
- ClinVarID:126670
- CG:BulkAnnotation
- ClinVarID:143008
- Variant:8
- Variant:26
- Variant:7
- CAID:CA299753
- CAID:CA161333
- ClinVarID:185108
- Variant:13
- ClinVarID:136133
- CAID:CA288472
- ClinVarID:126732
- CAID:CA168538
- CAID:CA395137900
- ClinVarID:126755
- ClinVarID:126767
- ClinVarID:126747
- ClinVarID:188058
- CAID:CA151236
- ClinVarID:126674
- ClinVarID:128144
- CAID:CA348301
- ClinVarID:126590
- ClinVarID:126726
- ClinVarID:126638
- CAID:CA277851
- Variant:41
- CAID:CA279502031
- ClinVarID:582957
- Variant:66
- Variant:14
- CAID:CA288435
- CAID:CA7963609
- CAID:CA269483
- CAID:CA269663
- CAID:CA269619
- Variant:22
- CAID:CA395137415
- CAID:CA10583351
- Variant:55
- ClinVarID:182773
- Variant:80
- Variant:27
- CAID:CA186642
- ClinVarID:126652
- Variant:91
- Variant:48
- ClinVarID:142079
- ClinVarID:126613
- ClinVarID:126595
- ClinVarID:126640
- CAID:CA151222
- ClinVarID:186840
- CAID:CA269551
- Variant:24
- ClinVarID:185069
- Variant:23
- CAID:CA299747
- ClinVarID:220218
- Variant:62
- ClinVarID:126742
- Variant:81
- CAID:CA279533895
- Variant:28
- ClinVarID:570698
- Variant:53
- ClinVarID:126582
- Variant:87
- ClinVarID:232781
- CAID:CA161330
- CAID:CA166841
- CAID:CA269654
- Variant:84
- ClinVarID:126746
- Variant:39
- CAID:CA10580054
- CAID:CA269625
- Variant:6
- Variant:4
- ClinVarID:229738
- ClinVarID:142465
- ClinVarID:230665
- Variant:11
- CAID:CA7963488
- ClinVarID:187262
- CAID:CA151249
- ClinVarID:183828
- CAID:CA269645
- CAID:CA151239
- Variant:58
- ClinVarID:141320
- CAID:CA331796
- Variant:56
- ClinVarID:182774
- ClinVarID:140850
- ClinVarID:126777
- Variant:52
- Variant:47
- CAID:CA10583357
- Variant:60
- Variant:9
- Variant:40
- ClinVarID:232977
- ClinVarID:217917
- ClinVarID:126738
- Variant:31
- Variant:77
- CAID:CA10579934
- ClinVarID:482010
- CAID:CA164933
- ClinVarID:126682
- Variant:45
- CAID:CA7963440
- CAID:CA299799
- Variant:30
- Variant:76
- FuncAssay:1
- CAID:CA294118
- ClinVarID:126716
- ClinVarID:480232
- CAID:CA7963665
- CAID:CA170010
- CAID:CA168345
- ClinVarID:126591
- Variant:17
- ClinVarID:142504
- Variant:71
- CAID:CA294249
- CAID:CA339433
- CAID:CA151212
- CAID:CA10579945
- Variant:2
- Variant:29
- ClinVarID:245657
- Variant:43
- Variant:90
- CAID:CA269558
- Variant:50
- Variant:37
- ClinVarID:657328
- CAID:CA288398
- ClinVarID:141936
- ClinVarID:232905
- ClinVarID:126731
- ClinVarID:126709
- ClinVarID:126669
- Variant:49
- CAID:CA151230
- CAID:CA288460
- Variant:82
- Variant:21
- Variant:42
- CAID:CA7963328
- CAID:CA7963465
- CAID:CA196291
- ClinVarID:128134
- ClinVarID:184941
- ClinVarID:182775
- CGType:Variant
- ValidationControl:Benign
- Variant:85
- CAID:CA168427
- ClinVarID:126779
- Variant:34
- CAID:CA166991
- ClinVarID:126647
- CAID:CA269610
- Variant:36
- Variant:5
- ClinVarID:241525
Annotators
URL
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www.biorxiv.org www.biorxiv.org
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Reviewer #1:
In this manuscript, Fernandez et al examine the impact of defective telomere length maintenance on type II alveolar epithelial cells, which are thought to be central to the pathogenesis of pulmonary fibrosis in dyskeratosis congenita (DC) and related telomere biology disorders. Murine models have been used to address how telomere dysfunction in AT2 cells drives pulmonary fibrosis however these models have limitations. Therefore, the investigators' study of human AT2 cells/organoids derived from induced pluripotent stem cells (iAT2 cells) in the presence and absence of a known DC pathogenic variant provides an exceptional model. In addition, the investigators use expression profiling to uncover decreased canonical WNT signaling in iAT2 cells with telomere dysfunction and then demonstrate rescue of telomere dysfunction and iAT2 cell growth with the addition of a GSK3 inhibitor, a canonical WNT agonist. The data appear to be of high quality, the approaches and interpretation appropriate, with some noted exceptions below. Given the importance of the problem (dysfunctional telomere-induced pulmonary fibrosis) and the apparent benefit of GSK3 inhibition of iAT2 cell growth and telomere dysfunction, which extends the work published by this group previously on intestinal organoids (might enhanced canonical WNT signaling more broadly affect other tissues with telomere-induced senescence?), this work is significant.
A few aspects of the studies dampen the ability to draw certain conclusions. For example, the authors use iPSCs that are 5 vs 25 passages after introduction (or not) of the DKC1 A386T mutation for the generation of iAT2 cells. They then show iAT2 DKC1 mutant organoids generated from the later passage iPSCs have an apparent growth defect as early as Day 50 but that those generated from the earlier passage iPSCs do not at Day 70 [with caveats the images are of different quality (comparing Fig. 1B and Fig. S3D) and quantitative data (similar to Fig. 1C) are lacking for the iAT2 organoids generated from the early passage iPSCs]. They argue that progressive telomere shortening is the cause of the growth defects. If this is the case, then the iAT2 cells generated from the earlier passages should eventually show growth defects with progressive telomeres shortening, which was not shown.
The telomere length analysis of the iAT2 cells at Day 50 and Day 70 are not markedly different, and neither the % p21 + nor TIF+ cells is shown for Day 50. Therefore, the conclusion that it is the accumulation of short uncapped telomeres in the DKC1 mutant iAT2 cells that alters gene expression and induces senescence at Day 70 ignores the extent of these changes at Day 50.
The statement that CHIR99021 (when present in the medium from Day 49-70) rescued the growth defect seems generous; the effect is partial and the assay is for organoid formation efficiency only. Moreover, it is most likely prohibiting the further accumulation of senescent cells rather than rescuing cells that were not previously growing.
It is striking that prolonged CHIR99021 treatment (ie, through to Day 70) resulted in increased telomerase activity, and more so in mutant compared to wild type cells. First, how reproducible was this effect? I appreciate that the authors have not explored this for this manuscript, however, TERT expression does not rescue DKC1 mutants but TERC does. Were TERC levels increased? Also, given this robust increase, it is striking that no difference is detected in TeSLA assays given the proportion of very short detected telomeres that would presumably be substrates for telomerase. It is noteworthy that, in the protocol to derive iAT2 cells, CHIR99021 is present in the media prior to Day 28. This raises the question of whether there is rescue of telomerase in the cells exposed to CHIR99021 in the interval of iAT2 specification?
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Olaparib sensitivity assayFor the sensitivity assay in HeLa, 240 000 cells were seeded into one well of a six-well plate before being transfected 6–8 h later with 50 nM control or PALB2 siRNA using Lipofectamine RNAiMAX (Invitrogen). The next morning, cells were complemented with 800 ng of the peYFP-C1 empty vector or the indicated siRNA-resistant YFP-tagged PALB2 construct using Lipofectamine 2000 (Invitrogen) for 24 h and then seeded in triplicates into a Corning 3603 black-sided clear bottom 96-well microplate at a density of 3000 cells per well. The remaining cells were kept and stored at −80°C until processed for protein extraction and immunoblotting as described above. Once attached to the plate, cells were exposed to different concentrations of olaparib (Selleckchem, #S1060) ranging from 0 (DMSO) to 2.5 μM. After 3 days of treatment, nuclei were stained with Hoechst 33342 (Invitrogen) at 10 μg/ml in media for 45 min at 37°C. Images of entire wells were acquired at 4x with a Cytation 5 Cell Imaging Multi-Mode Reader followed by quantification of Hoechst-stained nuclei with the Gen5 Data Analysis Software v3.03 (BioTek Instruments). Cell viability was expressed as percentage of survival in olaparib-treated cells relative to vehicle (DMSO)-treated cells. Results represent the mean ± SD of at least 3 independent experiments, each performed in triplicate.
AssayGeneralClass: BAO:0003009 cell viability assay
AssayMaterialUsed: CLO:0003684 HeLa cell
AssayDescription: HeLa cells were treated with PALB2 siRNA followed by transfection peYFP-PALB2 expressing PALB2 variants (or empty vector) and exposed to olaparib (2.5 µM) for 3 days. Nuclei were stained with Hoechst 33342 and measured as an indicator of cell viability.
AssayReadOutDescription: Cell viability expressed as percentage of survival in olaparib-treated cells relative to vehicle (DMSO)-treated cells
AssayRange: %
AssayNormalRange: Not reported
AssayAbnormalRange: Not reported
AssayIndeterminateRange: Not reported
ValidationControlPathogenic: 1
ValidationControlBenign: 3
Replication: At least 3 independent experiments, each performed in triplicate
StatisticalAnalysisDescription: Kruskal–Wallis test with Dunn's multiple comparison post-test
-
SUPPLEMENTARY DATA
AssayResult: 5
AssayResultAssertion: Abnormal
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 6C.
-
SUPPLEMENTARY DATA
AssayResult: -98
AssayResultAssertion: Abnormal
PValue: < 0.0001
-
SUPPLEMENTARY DATA
AssayResult: 48
AssayResultAssertion: Abnormal
PValue: < 0.0001
Approximation: Exact assay result value not reported; value estimated from Figure 1D.
ControlType: Abnormal; empty vector
-
SUPPLEMENTARY DATA
AssayResult: 100
AssayResultAssertion: Normal
ControlType: Normal; wild type PALB2 cDNA
-
SUPPLEMENTARY DATA
AssayResult: 106
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 108.6
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 64.45
AssayResultAssertion: Abnormal
PValue: < 0.0001
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 84.49
AssayResultAssertion: Indeterminate
PValue: 0.0058
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 92.43
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 88.66
AssayResultAssertion: Not reported
PValue: 0.727
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 96.63
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 97.59
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 94.36
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 98.94
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 87.19
AssayResultAssertion: Not reported
PValue: 0.341
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 98.25
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 57.61
AssayResultAssertion: Abnormal
PValue: < 0.0001
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 109.2
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 95.47
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 97.77
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 103.5
AssayResultAssertion: Normal
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 100.7
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 102.6
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 77.32
AssayResultAssertion: Indeterminate
PValue: 0.0002
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 82.22
AssayResultAssertion: Indeterminate
PValue: 0.004
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 96.97
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 102.1
AssayResultAssertion: Normal
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 101.6
AssayResultAssertion: Normal
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 109.7
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 109.4
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 107.5
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 100.5
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 103.3
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 108.7
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 106.8
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 94.01
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 92.68
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 92.03
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 93.06
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 86.49
AssayResultAssertion: Not reported
PValue: 0.3376
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 76.21
AssayResultAssertion: Indeterminate
PValue: 0.0001
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 85.76
AssayResultAssertion: Indeterminate
PValue: 0.0445
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 47.64
AssayResultAssertion: Abnormal
PValue: < 0.0001
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 86.51
AssayResultAssertion: Not reported
PValue: 0.2166
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 97.46
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 91.53
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 82.06
AssayResultAssertion: Indeterminate
PValue: 0.0058
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 76.45
AssayResultAssertion: Indeterminate
PValue: 0.0001
Comment: Exact values reported in Table S3.
-
SUPPLEMENTARY DATA
AssayResult: 86.74
AssayResultAssertion: Not reported
PValue: 0.1836
Comment: Exact values reported in Table S3.
-
To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.104T>C p.(Leu35Pro)
Tags
- Variant:10
- CAID:CA288392
- CAID:CA193686
- CAID:CA279500276
- Variant:27
- CAID:CA186642
- ClinVarID:126652
- ClinVarID:128124
- Variant:16
- ValidationControl:WildType
- Variant:19
- ClinVarID:126782
- CAID:CA395139432
- Variant:24
- AssayControl:Abnormal
- Variant:23
- Variant:3
- Variant:35
- ValidationControl:Pathogenic
- HGNC:26144
- Variant:28
- CAID:CA161318
- Variant:15
- ClinVarID:128150
- CAID:CA288504
- CAID:CA7963418
- CAID:CA279500159
- CAID:CA196624
- CAID:CA269654
- Variant:39
- ClinVarID:657666
- ClinVarID:126760
- ClinVarID:126741
- ClinVarID:126699
- CAID:CA168501
- CGType:FunctionalAssayResult
- CAID:CA269625
- Variant:6
- ClinVarID:220168
- Variant:4
- UO:0000187
- ClinVarID:126683
- Variant:44
- ClinVarID:126774
- Variant:11
- Variant:12
- ClinVarID:126708
- Variant:38
- ClinVarID:183828
- CAID:CA151239
- CAID:CA299750
- BAO:0003009
- Variant:33
- CAID:CA331796
- ClinVarID:182774
- ClinVarID:126781
- CAID:CA288386
- Variant:20
- Variant:5
- ClinVarID:126593
- CAID:CA269636
- Variant:25
- ClinVarID:187058
- AssayRangeType:Quantitative
- Variant:9
- Variant:40
- CAID:CA288441
- ClinVarID:232977
- ClinVarID:217917
- CAID:CA239946
- Variant:32
- Variant:31
- ClinVarID:126738
- ClinVarID:241553
- CAID:CA10579934
- ClinVarID:126693
- CAID:CA395139263
- FuncAssay:3
- ClinVarID:126682
- CAID:CA395139336
- Variant:45
- CAID:CA299799
- Variant:30
- ClinVarID:126743
- CAID:CA395140053
- FuncAssay:1
- ClinVarID:126716
- MONDO:0016419
- CAID:CA269666
- CAID:CA269585
- Variant:1
- Variant:18
- CAID:CA151233
- ClinVarID:126758
- Variant:17
- CAID:CA7963442
- CAID:CA151242
- ClinVarID:126761
- CAID:CA331799
- Variant:8
- CG:BulkAnnotation
- CAID:CA395144524
- Variant:29
- Variant:26
- Variant:2
- Variant:43
- Variant:7
- CAID:CA161333
- CAID:CA161321
- Variant:37
- Variant:13
- ClinVarID:657328
- CAID:CA161315
- FuncAssay:2
- AssayControl:Normal
- ClinVarID:126747
- ClinVarID:126731
- ClinVarID:188387
- ClinVarID:126727
- CAID:CA151236
- ClinVarID:126669
- ClinVarID:126755
- CAID:CA348162
- Variant:21
- Variant:42
- ClinVarID:422560
- CGType:FunctionalAssay
- CAID:CA7963465
- CAID:CA334766
- ClinVarID:126590
- CGType:Variant
- CAID:CA269619
- CAID:CA277851
- ClinVarID:487020
- CAID:CA279502031
- ClinVarID:582957
- ValidationControl:Benign
- Variant:14
- Variant:34
- ClinVarID:126779
- Variant:41
- ClinVarID:126647
- CLO:0003684
- CAID:CA269610
- Variant:36
- CAID:CA269663
- CAID:CA294183
- Variant:22
Annotators
URL
-
-
www.biorxiv.org www.biorxiv.org
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Reviewer #1 (Public Review):
The authors used a CRISPR screen to investigate the basis of metastasis of ovarian cancer (OC) cells. Overall, they identified two key genes, IL20RA, one of which was studied in detail. They identify an IL20/IL20RA communication between ovarian cancer cells and peritoneal mesothelial cells to promote M1 macrophages and prevent dissemination of the cancer cells. IL-20 mediated crosstalk is blocked in metastasized OC cells by decreased expression of IL-20RA. Interestingly, IL20RA is also decreased in cells from OC patients with peritoneal metastasis, and reconstitution of IL20RA in metastatic OC cells suppresses metastasis. Moreover, OC cells induce mesothelial cells to produce IL20 and IL24.
Overall, this is a nice study. It is well-written, and the data are clear. A range of methodologies are used that support the conclusions, with both over-expression and under-expression related studies supporting some key conclusions.
The overall model is that there is crosstalk between disseminated OC cells and mesothelial cells and macrophages. OC cells when disseminated into the peritoneal cavity stimulate mesothelial cells to produced IL20 and IL24, which via IL20RA trigger STAT3 to produced OAS/RNase L and production of IL-18, to promote an M1 phenotype. The M1 phenotype lowers metastasis. Highly metastatic cells block this pathway by decreasing IL20RA expression.
These findings are interesting, with potential therapeutic ramifications.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A cell-based functional assay for PALB2 variants
AssayGeneralClass: BAO:0003061 reporter protein
AssayMaterialUsed: CLO:0037317 mouse embryonic stem cell line
AssayDescription: Stable expression of wild type and variant PALB2 cDNA constructs in Trp53 and Palb2-null mouse cell line containing DR-GFP reporter; I-SceI endonuclease introduces a double-stranded break in the reporter construct and efficient repair results in GFP expression, which is detected by flow cytometry
AssayReadOutDescription: Relative homologous recombination (HR) efficiency represented as mean percentages of GFP-positive cells among the mCherry-positive cells relative to wild type, which was set to 100%
AssayRange: %
AssayNormalRange: HR levels comparable to that of cells expressing wild type PALB2; no numeric threshold given
AssayAbnormalRange: HR levels ≤40% of wild type
AssayIndeterminateRange: Not reported
ValidationControlPathogenic: 12
ValidationControlBenign: 9
Replication: 2 independent experiments
StatisticalAnalysisDescription: Not reported
-
Source Data
AssayResult: 115.71
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 3.09
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 80.95
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 0.01
StandardErrorMean: 0
Comment: Exact values reported in “Source Data” file. Discrepancy in “Supplementary Data 1” file: nucleotide reported as c.3191A>G.
-
Source Data
AssayResult: 101.02
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 5.45
StandardErrorMean: 3.86
Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as T1064C.
-
Source Data
AssayResult: 84.43
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 2.77
StandardErrorMean: 1.96
Comment: Exact values reported in “Source Data” file. Discrepancy in “Source Data” file: protein reported as L855P (based on matching values reported in the “Supplementary Data 1” file to values reported in the “Source Data” file.
-
Source Data
AssayResult: 15.58
AssayResultAssertion: Abnormal
ReplicateCount: 6
StandardDeviation: 0.52
StandardErrorMean: 0.37
ControlType: Abnormal; empty vector (set 5)
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 7.93
AssayResultAssertion: Abnormal
ReplicateCount: 6
StandardDeviation: 0.56
StandardErrorMean: 0.39
ControlType: Abnormal; empty vector (set 4)
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 8.71
AssayResultAssertion: Abnormal
ReplicateCount: 6
StandardDeviation: 1.75
StandardErrorMean: 1.24
ControlType: Abnormal; empty vector (set 3)
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 7.11
AssayResultAssertion: Abnormal
ReplicateCount: 6
StandardDeviation: 2.37
StandardErrorMean: 1.68
ControlType: Abnormal; empty vector (set 2)
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 7.83
AssayResultAssertion: Abnormal
ReplicateCount: 6
StandardDeviation: 1.13
StandardErrorMean: 0.8
ControlType: Abnormal; empty vector (set 1)
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 100
AssayResultAssertion: Normal
ReplicateCount: 38
StandardDeviation: 0
StandardErrorMean: 0
ControlType: Normal; wild type PALB2 cDNA
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 97.16
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 1.32
StandardErrorMean: 0.93
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 30.35
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 3.64
StandardErrorMean: 2.57
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 20.32
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 0.49
StandardErrorMean: 0.35
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 7.42
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 2.87
StandardErrorMean: 2.03
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 91.47
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 8.63
StandardErrorMean: 6.1
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 100.19
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 5.64
StandardErrorMean: 3.99
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 10.53
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 2.79
StandardErrorMean: 1.97
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 90.64
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 1.82
StandardErrorMean: 1.29
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 11.37
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 0.36
StandardErrorMean: 0.26
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 70.86
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 17.18
StandardErrorMean: 12.15
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 81.81
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 7.45
StandardErrorMean: 5.27
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 90.54
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 10.24
StandardErrorMean: 7.24
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 13.45
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 2.2
StandardErrorMean: 1.55
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 92.2
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 19.94
StandardErrorMean: 14.1
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 90.79
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 6.38
StandardErrorMean: 4.51
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 69.83
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 5.94
StandardErrorMean: 4.2
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 75.85
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 4.78
StandardErrorMean: 3.38
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 94.33
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 9.99
StandardErrorMean: 7.07
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 102.58
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 2.19
StandardErrorMean: 1.55
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 21.79
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 1.84
StandardErrorMean: 1.3
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 95.86
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 1.62
StandardErrorMean: 1.15
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 91.21
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 7.32
StandardErrorMean: 5.18
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 10.59
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 0.6
StandardErrorMean: 0.43
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 76.97
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 3.1
StandardErrorMean: 2.19
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 7.92
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 1.32
StandardErrorMean: 0.94
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 38.85
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 3.05
StandardErrorMean: 2.15
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 16.89
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 3.12
StandardErrorMean: 2.21
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 17.62
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 1.76
StandardErrorMean: 1.25
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 86.41
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 17.62
StandardErrorMean: 12.46
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 6.16
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 1.27
StandardErrorMean: 0.9
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 95.16
AssayResultAssertion: Not reported
ReplicateCount: 3
StandardDeviation: 16.94
StandardErrorMean: 9.78
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 7.08
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 0.54
StandardErrorMean: 0.38
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 14.01
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 0.53
StandardErrorMean: 0.38
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 74.49
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 2.29
StandardErrorMean: 1.62
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 6.53
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 0.29
StandardErrorMean: 0.21
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 30.27
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 1.04
StandardErrorMean: 0.74
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 7.63
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 0.51
StandardErrorMean: 0.36
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 63.4
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 5.92
StandardErrorMean: 4.18
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 60.28
AssayResultAssertion: Not reported
ReplicateCount: 3
StandardDeviation: 0.14
StandardErrorMean: 0.1
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 17.35
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 6.21
StandardErrorMean: 4.39
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 106.23
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 14.57
StandardErrorMean: 10.3
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 75.71
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 22.31
StandardErrorMean: 15.77
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 6.66
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 0.28
StandardErrorMean: 0.2
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 6.1
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 2.11
StandardErrorMean: 1.49
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 84.07
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 2.47
StandardErrorMean: 1.75
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 100.07
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 6.18
StandardErrorMean: 4.37
Comment: Exact values reported in “Source Data” file.
Tags
- ClinVarID:126749
- CAID:CA163622
- Variant:63
- ClinVarID:484219
- ClinVarID:186939
- AssayControl:Abnormal
- Variant:35
- ClinVarID:216752
- ValidationControl:Pathogenic
- HGNC:26144
- CAID:CA494163316
- ClinVarID:126740
- CAID:CA167348
- Variant:65
- ClinVarID:219647
- ClinVarID:126699
- Variant:67
- CAID:CA192169
- CGType:FunctionalAssayResult
- ClinVarID:182786
- ClinVarID:230588
- Variant:59
- CAID:CA251004
- ClinVarID:461007
- ClinVarID:126683
- Variant:44
- CAID:CA196017
- ClinVarID:126774
- Variant:61
- Variant:38
- CAID:CA151250
- ClinVarID:460996
- Variant:46
- Variant:33
- CAID:CA197176
- ClinVarID:182741
- Variant:51
- Variant:25
- AssayRangeType:Quantitative
- Variant:57
- CAID:CA395139673
- Variant:32
- ClinVarID:241553
- ClinVarID:484186
- Variant:54
- Variant:70
- CAID:CA195974
- MONDO:0016419
- Variant:1
- ClinVarID:126758
- Variant:64
- Variant:69
- CAID:CA350039
- ClinVarID:1245
- CAID:CA151242
- ClinVarID:126761
- ClinVarID:126670
- CG:BulkAnnotation
- CAID:CA294562
- CAID:CA395144862
- CAID:CA395141224
- CAID:CA395141313
- Variant:26
- CAID:CA161333
- CAID:CA279524947
- CAID:CA279530867
- CAID:CA395144928
- CAID:CA395145110
- AssayControl:Normal
- ClinVarID:126747
- CAID:CA288478
- ClinVarID:126711
- CGType:FunctionalAssay
- ClinVarID:186824
- Variant:41
- CAID:CA299663
- Variant:66
- CAID:CA395122261
- CAID:CA210470
- ClinVarID:182773
- CAID:CA395137985
- Variant:55
- ClinVarID:484164
- Variant:27
- ValidationControl:WildType
- Variant:48
- ClinVarID:142079
- ClinVarID:186840
- CAID:CA269551
- Variant:24
- Variant:23
- CAID:CA299747
- CAID:CA395137855
- Variant:62
- ClinVarID:185518
- Variant:28
- CAID:CA395121845
- Variant:53
- ClinVarID:126582
- CAID:CA269654
- CAID:CA395142764
- CAID:CA395144208
- Variant:39
- ClinVarID:567901
- CAID:CA10580054
- ClinVarID:1246
- CAID:CA269625
- UO:0000187
- ClinVarID:128136
- ClinVarID:187262
- CAID:CA923726356
- Variant:58
- CAID:CA151239
- CAID:CA331796
- Variant:56
- Variant:47
- Variant:52
- Variant:60
- Variant:40
- ClinVarID:232977
- ClinVarID:126738
- Variant:31
- CAID:CA10579934
- Variant:45
- Variant:30
- FuncAssay:1
- ClinVarID:420826
- CLO:0037317
- CAID:CA395141474
- Variant:68
- CAID:CA151212
- CAID:CA339433
- ClinVarID:922719
- Variant:29
- Variant:43
- Variant:50
- Variant:37
- CAID:CA16620118
- CAID:CA164468
- FuncAssay:2
- ClinVarID:126706
- Variant:49
- Variant:21
- CAID:CA395137656
- Variant:42
- CAID:CA7963465
- CAID:CA196291
- CAID:CA299784
- ValidationControl:Benign
- Variant:34
- Variant:36
- CAID:CA658658444
- CAID:CA161315
- BAO:0003061
Annotators
URL
-