- Mar 2021
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Homology directed repair (HDR) assayEach variant was introduced into a HA-FLAG-tagged full-length PALB2 complementary DNA (cDNA) expression in the pOZC plasmid by site-directed mutagenesis using pfu turbo. Variants were verified by Sanger sequencing. Cotransfection of PALB2 expression constructs and the I-SceI expression plasmid into B400/DR-GFP reporter cells was performed at a 5:1 molar ratio using Xtremegene 9 transfection reagent (Roche). At least two independent clones containing each variant were analyzed in duplicate. PALB2 expression and transfection efficiency was verified by western blotting. Green fluorescence protein (GFP) expressing cells were quantified by fluorescence-activated cell sorting. Fold increases in GFP-positive cells, which are equivalent to HDR fold change, were normalized and rescaled relative to a 1:5 ratio derived from the p.Y551X pathogenic variant control and the wild-type PALB2 control.
AssayGeneralClass: BAO:0003061 reporter protein
AssayMaterialUsed: CLO:0036938 tumor-derived 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: Homology directed repair (HDR) activity fold change, measured as GFP-positive cells and normalized relative to wild type PALB2 (set to 5.0) and the p.Y551X truncating variant (set to 1.0).
AssayRange: scaled score
AssayNormalRange: >4.4
AssayAbnormalRange: ≤1.7 for "deleterious" variants and ≤2.4 for "hypomorphic"variants
AssayIndeterminateRange: >2.4-<4.4
ValidationControlPathogenic: 7
ValidationControlBenign: 4
Replication: At least 2 independent clones per variant, each analyzed in duplicate
StatisticalAnalysisDescription: Not reported
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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: 5
AssayResultAssertion: Normal
StandardErrorMean: 0
ControlType: Normal; wild type PALB2 cDNA
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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: 0.5
AssayResultAssertion: Abnormal
StandardErrorMean: 0.03
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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: 0.5
AssayResultAssertion: Abnormal
StandardErrorMean: 0.05
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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
-
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
-
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
-
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
-
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
-
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
Tags
- ClinVarID:126590
- ClinVarID:128138
- Variant:48
- Variant:29
- CAID:CA10580054
- Variant:3
- ClinVarID:142048
- CAID:CA10579994
- ClinVarID:126716
- CAID:CA168345
- CAID:CA186642
- ClinVarID:126755
- CAID:CA294249
- CAID:CA151230
- CAID:CA170010
- ClinVarID:128144
- Variant:9
- Variant:89
- CAID:CA333921
- Variant:2
- ClinVarID:126669
- Variant:28
- ClinVarID:136133
- Variant:87
- ClinVarID:142465
- ClinVarID:186939
- Variant:37
- ClinVarID:126741
- CAID:CA151249
- Variant:10
- Variant:22
- BAO:0003061
- CAID:CA339433
- CAID:CA269625
- ClinVarID:126647
- CAID:CA163734
- ClinVarID:126731
- ClinVarID:126595
- CAID:CA269483
- Variant:24
- Variant:23
- CAID:CA269522
- ClinVarID:126774
- CAID:CA191499
- CAID:CA167348
- ClinVarID:126591
- Variant:62
- ClinVarID:126747
- ClinVarID:126780
- ClinVarID:186029
- ClinVarID:185108
- ClinVarID:126652
- Variant:78
- Variant:52
- ClinVarID:480232
- ClinVarID:128134
- ClinVarID:126613
- ValidationControl:Pathogenic
- CAID:CA196291
- Variant:11
- CAID:CA288460
- CAID:CA288435
- ClinVarID:126779
- Variant:80
- CAID:CA294118
- ClinVarID:570698
- Variant:69
- ClinVarID:230588
- Variant:18
- Variant:63
- Variant:50
- ClinVarID:126734
- CAID:CA166991
- ClinVarID:482010
- Variant:59
- CAID:CA269619
- ClinVarID:182773
- ClinVarID:232905
- CAID:CA161327
- Variant:16
- CAID:CA16620143
- ClinVarID:183828
- ClinVarID:582957
- Variant:34
- ClinVarID:143008
- CAID:CA269654
- ClinVarID:126782
- Variant:33
- CAID:CA395137900
- ClinVarID:216752
- Variant:75
- CLO:0036938
- Variant:85
- ClinVarID:126738
- CAID:CA151236
- Variant:65
- ClinVarID:140850
- Variant:70
- CAID:CA331796
- CAID:CA7963609
- ClinVarID:186840
- CAID:CA151212
- Variant:64
- Variant:57
- CAID:CA269636
- ClinVarID:141320
- CAID:CA197176
- Variant:42
- CAID:CA294144
- Variant:27
- ClinVarID:185069
- AssayRangeType:Quantitative
- CAID:CA151242
- CAID:CA164933
- CAID:CA299753
- CAID:CA299799
- Variant:19
- CAID:CA161336
- CAID:CA395137415
- Variant:20
- Variant:54
- Variant:79
- ClinVarID:187262
- CAID:CA10580016
- Variant:41
- CAID:CA7963328
- ClinVarID:230665
- Variant:32
- Variant:88
- Variant:56
- ValidationControl:Benign
- ClinVarID:141974
- CAID:CA10583351
- ClinVarID:126582
- Variant:36
- AssayControl:Normal
- Variant:4
- Variant:35
- ClinVarID:241550
- ClinVarID:126761
- Variant:81
- CAID:CA299747
- CAID:CA7963465
- Variant:66
- ClinVarID:126683
- Variant:31
- CAID:CA10579945
- Variant:13
- CAID:CA166841
- ClinVarID:233127
- Variant:6
- ClinVarID:182774
- CAID:CA167019
- CAID:CA348301
- CAID:CA288488
- CAID:CA269645
- CAID:CA299737
- Variant:83
- ClinVarID:142079
- ClinVarID:241560
- Variant:30
- Variant:15
- Variant:12
- CAID:CA395139263
- CAID:CA151239
- Variant:55
- ClinVarID:241525
- CAID:CA10583375
- Variant:76
- CAID:CA168538
- CAID:CA190922
- Variant:21
- CAID:CA7963488
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- Variant:72
- ClinVarID:126777
- CAID:CA168427
- Variant:38
- Variant:60
- CAID:CA10579934
- CAID:CA395139751
- CAID:CA277851
- Variant:26
- Variant:74
- Variant:51
- CAID:CA191059
- Variant:39
- Variant:17
- ClinVarID:126630
- Variant:53
- CAID:CA269666
- ClinVarID:126726
- ClinVarID:126767
- Variant:5
- ClinVarID:141936
- CAID:CA288475
- CAID:CA251717
- ClinVarID:419370
- ClinVarID:241553
- CAID:CA288386
- MONDO:0016419
- Variant:40
- ClinVarID:126638
- CAID:CA269551
- ClinVarID:126594
- Variant:45
- ClinVarID:185273
- ClinVarID:126732
- CAID:CA161333
- CAID:CA299750
- ClinVarID:182770
- Variant:71
- Variant:58
- CAID:CA279502031
- ClinVarID:232781
- ClinVarID:126699
- Variant:14
- Variant:44
- CAID:CA288398
- ClinVarID:126746
- Variant:25
- ClinVarID:229738
- ClinVarID:1243
- CAID:CA151222
- CAID:CA269622
- Variant:86
- ClinVarID:657328
- CAID:CA7963440
- FuncAssay:1
- CG:BulkAnnotation
- CAID:CA288451
- Variant:91
- Variant:90
- Variant:46
- ClinVarID:217917
- ClinVarID:126742
- CAID:CA288441
- Variant:61
- ClinVarID:126709
- ClinVarID:245657
- CAID:CA269558
- CAID:CA190537
- CAID:CA168501
- ClinVarID:126670
- ClinVarID:126640
- CAID:CA7963617
- ClinVarID:126739
- CAID:CA196017
- CGType:FunctionalAssay
- ClinVarID:141256
- CAID:CA161330
- Variant:1
- Variant:84
- ClinVarID:126674
- HGNC:26144
- CAID:CA279533895
- CAID:CA288472
- ClinVarID:184941
- ClinVarID:225856
- Variant:67
- CAID:CA193659
- Variant:82
- CAID:CA269610
- CAID:CA10583357
- Variant:68
- CGType:FunctionalAssayResult
- Variant:8
- CAID:CA169555
- CAID:CA151233
- CAID:CA269663
- ClinVarID:220218
- ClinVarID:188058
- CAID:CA7963665
- Variant:47
- ClinVarID:232317
- ClinVarID:232977
- Variant:7
- Variant:43
- Variant:77
- ClinVarID:142504
- Variant:73
- Variant:49
- ValidationControl:WildType
Annotators
URL
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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.
Tags
- ClinVarID:126590
- Variant:36
- AssayControl:Normal
- Variant:35
- ClinVarID:126761
- Variant:4
- FuncAssay:2
- Variant:29
- Variant:3
- CAID:CA395140053
- ClinVarID:126716
- CAID:CA7963442
- CAID:CA186642
- CAID:CA7963465
- ClinVarID:126755
- ClinVarID:187058
- Variant:31
- ClinVarID:126683
- CAID:CA161315
- Variant:13
- Variant:9
- ClinVarID:128124
- Variant:2
- ClinVarID:188387
- ClinVarID:126669
- ClinVarID:182774
- Variant:28
- Variant:6
- CAID:CA269585
- Variant:30
- Variant:37
- ClinVarID:126741
- Variant:15
- Variant:12
- CAID:CA395139263
- CAID:CA151239
- Variant:10
- Variant:22
- CAID:CA269625
- CAID:CA395139336
- CAID:CA196624
- ClinVarID:126647
- ClinVarID:126731
- Variant:21
- Variant:24
- ClinVarID:126682
- Variant:23
- ClinVarID:126774
- Variant:38
- UO:0000187
- ClinVarID:126747
- CAID:CA395139432
- CLO:0003684
- CAID:CA10579934
- CAID:CA277851
- Variant:26
- CAID:CA161318
- ClinVarID:126652
- Variant:39
- ClinVarID:657666
- Variant:17
- CAID:CA269666
- ClinVarID:422560
- CAID:CA294183
- Variant:5
- CAID:CA334766
- ValidationControl:Pathogenic
- CAID:CA395144524
- Variant:11
- ClinVarID:126758
- ClinVarID:241553
- FuncAssay:3
- MONDO:0016419
- CAID:CA288386
- ClinVarID:126779
- Variant:40
- CAID:CA288392
- Variant:18
- ClinVarID:126693
- AssayControl:Abnormal
- Variant:45
- CAID:CA269619
- ClinVarID:126760
- CAID:CA161333
- CAID:CA299750
- ClinVarID:220168
- ClinVarID:126781
- ClinVarID:183828
- CAID:CA7963418
- CAID:CA279502031
- ClinVarID:582957
- ClinVarID:126699
- Variant:16
- Variant:14
- CAID:CA193686
- ClinVarID:126743
- Variant:25
- Variant:34
- CAID:CA269654
- ClinVarID:126782
- Variant:33
- CAID:CA279500159
- CAID:CA161321
- ClinVarID:126593
- ClinVarID:657328
- ClinVarID:128150
- ClinVarID:126738
- CAID:CA151236
- ClinVarID:487020
- FuncAssay:1
- CG:BulkAnnotation
- CAID:CA288441
- BAO:0003009
- ClinVarID:217917
- CAID:CA331796
- CAID:CA331799
- CAID:CA269636
- CAID:CA168501
- Variant:27
- ClinVarID:126708
- Variant:42
- CAID:CA348162
- AssayRangeType:Quantitative
- CAID:CA151242
- CGType:FunctionalAssay
- CAID:CA299799
- Variant:1
- Variant:19
- HGNC:26144
- Variant:20
- CAID:CA269610
- CAID:CA239946
- CGType:FunctionalAssayResult
- Variant:8
- Variant:41
- ClinVarID:126727
- CAID:CA151233
- CAID:CA288504
- Variant:32
- CAID:CA269663
- ValidationControl:Benign
- CAID:CA279500276
- ClinVarID:232977
- Variant:7
- Variant:43
- Variant:44
- ValidationControl:WildType
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
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
- CAID:CA658658444
- Variant:48
- Variant:29
- CAID:CA10580054
- CAID:CA395141313
- CAID:CA395144928
- CAID:CA279524947
- CAID:CA395144208
- ClinVarID:126706
- Variant:28
- ClinVarID:186939
- Variant:37
- BAO:0003061
- CAID:CA339433
- CAID:CA269625
- CAID:CA395137985
- CAID:CA192169
- CAID:CA151250
- CAID:CA288478
- Variant:24
- Variant:62
- ClinVarID:126774
- Variant:23
- CAID:CA167348
- ClinVarID:126747
- CAID:CA299663
- Variant:52
- Variant:49
- CLO:0037317
- ValidationControl:Pathogenic
- CAID:CA196291
- ClinVarID:126758
- CAID:CA350039
- Variant:69
- ClinVarID:219647
- ClinVarID:230588
- ClinVarID:126740
- Variant:63
- Variant:59
- ClinVarID:182773
- ClinVarID:484164
- Variant:34
- CAID:CA269654
- Variant:33
- ClinVarID:216752
- ClinVarID:484186
- ClinVarID:126738
- Variant:65
- Variant:70
- CAID:CA331796
- CAID:CA151212
- CAID:CA299784
- Variant:57
- Variant:64
- ClinVarID:186840
- CAID:CA16620118
- CAID:CA197176
- Variant:42
- CAID:CA395139673
- Variant:27
- AssayRangeType:Quantitative
- CAID:CA151242
- Variant:54
- CAID:CA279530867
- ClinVarID:187262
- Variant:41
- Variant:32
- Variant:56
- ClinVarID:126749
- ValidationControl:Benign
- ClinVarID:126582
- Variant:36
- AssayControl:Normal
- Variant:35
- ClinVarID:126761
- FuncAssay:2
- ClinVarID:1246
- CAID:CA299747
- Variant:66
- CAID:CA7963465
- CAID:CA161315
- Variant:31
- ClinVarID:126683
- CAID:CA395145110
- ClinVarID:461007
- ClinVarID:142079
- CAID:CA395137656
- Variant:30
- ClinVarID:128136
- CAID:CA151239
- Variant:55
- ClinVarID:186824
- ClinVarID:185518
- CAID:CA294562
- Variant:21
- ClinVarID:420826
- CAID:CA395142764
- ClinVarID:182786
- Variant:38
- UO:0000187
- Variant:60
- CAID:CA10579934
- Variant:26
- Variant:51
- CAID:CA395141474
- Variant:39
- Variant:61
- Variant:53
- CAID:CA395121845
- CAID:CA395141224
- ClinVarID:241553
- MONDO:0016419
- Variant:40
- CAID:CA269551
- ClinVarID:460996
- CAID:CA395122261
- AssayControl:Abnormal
- Variant:45
- CAID:CA494163316
- CAID:CA161333
- ClinVarID:1245
- Variant:58
- ClinVarID:126699
- Variant:44
- CAID:CA395137855
- Variant:25
- CAID:CA395144862
- CAID:CA923726356
- FuncAssay:1
- CG:BulkAnnotation
- CAID:CA164468
- CAID:CA195974
- Variant:46
- ClinVarID:567901
- ClinVarID:484219
- ClinVarID:126711
- ClinVarID:126670
- ClinVarID:922719
- CAID:CA196017
- CGType:FunctionalAssay
- Variant:1
- HGNC:26144
- Variant:67
- CAID:CA163622
- CAID:CA210470
- Variant:68
- ClinVarID:182741
- CGType:FunctionalAssayResult
- Variant:47
- ClinVarID:232977
- Variant:43
- CAID:CA251004
- Variant:50
- ValidationControl:WildType
Annotators
URL
-