Yale researchers develop RNA-based therapy that clears SARS-CoV-2 from mice. (n.d.). EurekAlert! Retrieved January 9, 2022, from https://www.eurekalert.org/news-releases/934454
343 Matching Annotations
- Aug 2022
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www.eurekalert.org www.eurekalert.org
- May 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Pathogenic germline variants in DICER1 underlie an autosomal dominant, pleiotropic tumor-predisposition disorder.
gene name: DICER 1 PMID (PubMed ID): 33570641 HGNCID: n/a Inheritance Pattern: autosomal dominant Disease Entity: benign and malignant tumor mutation Mutation: somatic Zygosity: heterozygous Variant: n/a Family Information: n/a Case: people of all sexes, ages, ethnicities and races participated CasePresentingHPOs: individuals with DICER1-associated tumors or pathogenic germline DICER1 variants were recruited to participate CasePreviousTesting: n/a gnomAD: n/a
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- 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: 0.5
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
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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
-
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
-
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
- CAID:CA196291
- ClinVarID:186029
- ClinVarID:419370
- Variant:37
- CAID:CA166991
- CAID:CA167348
- CAID:CA269654
- Variant:33
- Variant:56
- CAID:CA299799
- Variant:34
- CAID:CA186642
- CAID:CA288460
- ClinVarID:186840
- ClinVarID:126761
- Variant:32
- CAID:CA269522
- ClinVarID:241560
- CAID:CA269622
- ClinVarID:126582
- Variant:87
- CAID:CA288435
- CAID:CA269558
- CG:BulkAnnotation
- Variant:80
- Variant:36
- ClinVarID:229738
- ClinVarID:142465
- ClinVarID:185108
- CAID:CA151249
- Variant:60
- CAID:CA339433
- CAID:CA288472
- CAID:CA161336
- ClinVarID:128138
- ClinVarID:480232
- ClinVarID:241550
- ClinVarID:126731
- CGType:FunctionalAssayResult
- CAID:CA151236
- ClinVarID:182770
- Variant:16
- Variant:1
- Variant:23
- CAID:CA277851
- CAID:CA395137415
- Variant:64
- ClinVarID:182773
- CAID:CA191059
- CAID:CA7963488
- ClinVarID:245657
- ClinVarID:126591
- Variant:81
- Variant:86
- ClinVarID:216752
- CAID:CA348301
- Variant:75
- Variant:5
- Variant:76
- ClinVarID:126780
- CAID:CA191499
- ClinVarID:126638
- CAID:CA164933
- CAID:CA279502031
- ClinVarID:126652
- Variant:90
- Variant:42
- Variant:59
- Variant:71
- CAID:CA167019
- CAID:CA163734
- CAID:CA294118
- ClinVarID:142504
- Variant:46
- ClinVarID:225856
- Variant:26
- CAID:CA333921
- CAID:CA151233
- Variant:24
- CAID:CA10579945
- CAID:CA269636
- Variant:70
- Variant:28
- CAID:CA269483
- Variant:57
- Variant:62
- ClinVarID:126746
- Variant:11
- Variant:9
- CAID:CA10583375
- Variant:55
- Variant:38
- ClinVarID:186939
- CAID:CA299753
- CAID:CA288451
- CAID:CA168538
- Variant:84
- ClinVarID:126741
- CAID:CA168501
- Variant:3
- CAID:CA299737
- CAID:CA288488
- Variant:20
- ClinVarID:143008
- Variant:67
- ClinVarID:220218
- ClinVarID:126669
- CAID:CA10579994
- ClinVarID:230665
- ClinVarID:482010
- Variant:74
- ClinVarID:126699
- ClinVarID:126709
- CAID:CA288475
- CAID:CA166841
- ClinVarID:128134
- ClinVarID:126734
- CAID:CA190922
- ClinVarID:126755
- ClinVarID:582957
- ClinVarID:570698
- CAID:CA279533895
- ClinVarID:141256
- ClinVarID:126767
- Variant:89
- ClinVarID:136133
- Variant:88
- CAID:CA10583351
- Variant:72
- ClinVarID:183828
- CAID:CA269610
- CAID:CA299747
- Variant:13
- ClinVarID:126716
- CAID:CA269625
- CAID:CA16620143
- CGType:Variant
- CAID:CA151242
- ClinVarID:126738
- ClinVarID:142048
- Variant:68
- Variant:82
- Variant:53
- CAID:CA7963617
- Variant:2
- Variant:30
- Variant:18
- Variant:91
- ClinVarID:126682
- CAID:CA331796
- Variant:65
- Variant:51
- ClinVarID:126640
- ClinVarID:217917
- Variant:85
- CAID:CA288398
- Variant:45
- CAID:CA395137900
- ClinVarID:126742
- CAID:CA251717
- Variant:14
- CAID:CA151222
- ClinVarID:182775
- CAID:CA151230
- ClinVarID:126782
- CAID:CA7963609
- ClinVarID:126613
- Variant:73
- CAID:CA269663
- ClinVarID:126590
- Variant:69
- ClinVarID:230588
- CAID:CA168345
- ClinVarID:126726
- CAID:CA294249
- CAID:CA269666
- ClinVarID:126739
- ClinVarID:657328
- ClinVarID:140850
- Variant:41
- ClinVarID:241525
- Variant:77
- Variant:39
- ClinVarID:126774
- Variant:83
- CAID:CA197176
- Variant:15
- CAID:CA161330
- ClinVarID:126777
- Variant:47
- ClinVarID:142079
- CAID:CA269551
- ClinVarID:126670
- Variant:66
- CAID:CA288441
- CAID:CA7963440
- Variant:40
- CAID:CA151239
- CAID:CA7963665
- ClinVarID:126594
- CAID:CA395139263
- CAID:CA7963465
- Variant:63
- CAID:CA161327
- Variant:19
- ClinVarID:141936
- Variant:61
- Variant:25
- ClinVarID:126647
- Variant:44
- CAID:CA193659
- ClinVarID:188058
- CAID:CA196017
- ClinVarID:126683
- Variant:54
- Variant:35
- Variant:31
- ClinVarID:232317
- CAID:CA10579934
- CAID:CA299750
- ClinVarID:126732
- CAID:CA10580016
- ClinVarID:126779
- FuncAssay:1
- ValidationControl:Pathogenic
- Variant:22
- CAID:CA395139751
- Variant:29
- Variant:12
- Variant:7
- CAID:CA7963328
- Variant:58
- ClinVarID:126630
- ClinVarID:184941
- ClinVarID:185069
- CAID:CA168427
- ClinVarID:232905
- Variant:17
- Variant:78
- CAID:CA269619
- ClinVarID:126595
- CAID:CA169555
- Variant:6
- ClinVarID:232977
- CAID:CA288386
- CAID:CA10580054
- ClinVarID:233127
- CAID:CA151212
- ClinVarID:141974
- ClinVarID:1243
- Variant:43
- Variant:4
- Variant:21
- Variant:49
- CAID:CA10583357
- ClinVarID:128144
- Variant:50
- CAID:CA170010
- ClinVarID:232781
- CAID:CA190537
- CAID:CA269645
- ClinVarID:187262
- ClinVarID:126674
- Variant:48
- Variant:79
- Variant:8
- ClinVarID:141320
- Variant:27
- ValidationControl:Benign
- Variant:52
- CAID:CA161333
- ClinVarID:241553
- Variant:10
- ClinVarID:185273
- CAID:CA294144
- ClinVarID:182774
- ClinVarID:126747
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
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: 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:13
- ClinVarID:126593
- ClinVarID:126760
- ClinVarID:126716
- Variant:37
- Variant:33
- CAID:CA269654
- CAID:CA269625
- CAID:CA299799
- CGType:Variant
- Variant:34
- CAID:CA186642
- ClinVarID:126738
- CAID:CA151242
- Variant:2
- ClinVarID:188387
- Variant:30
- Variant:18
- ClinVarID:126761
- Variant:32
- ClinVarID:126682
- CAID:CA193686
- CAID:CA331796
- ClinVarID:217917
- ClinVarID:128124
- CAID:CA239946
- Variant:45
- CG:BulkAnnotation
- Variant:36
- CAID:CA395139336
- CAID:CA161321
- ClinVarID:126708
- Variant:14
- ClinVarID:126782
- CAID:CA269585
- ClinVarID:220168
- CAID:CA7963442
- ClinVarID:126590
- CAID:CA269663
- ClinVarID:126731
- CGType:FunctionalAssayResult
- CAID:CA151236
- ClinVarID:422560
- CAID:CA269666
- Variant:16
- CAID:CA395140053
- Variant:1
- ClinVarID:657328
- Variant:23
- CAID:CA277851
- ClinVarID:126781
- Variant:41
- Variant:39
- ClinVarID:126774
- FuncAssay:3
- ClinVarID:126758
- Variant:15
- CAID:CA279500276
- CAID:CA279500159
- ClinVarID:187058
- Variant:5
- CAID:CA288441
- CAID:CA161318
- CAID:CA151239
- Variant:40
- CAID:CA395139263
- Variant:19
- CAID:CA7963465
- CAID:CA334766
- ClinVarID:487020
- Variant:25
- ClinVarID:126647
- CAID:CA279502031
- ClinVarID:126652
- ClinVarID:657666
- Variant:44
- Variant:42
- ClinVarID:126683
- ClinVarID:126693
- Variant:35
- Variant:31
- Variant:26
- CAID:CA151233
- CAID:CA299750
- Variant:28
- Variant:24
- CAID:CA10579934
- CAID:CA7963418
- CAID:CA269636
- ClinVarID:126779
- ValidationControl:Pathogenic
- FuncAssay:1
- Variant:22
- ClinVarID:128150
- Variant:29
- Variant:11
- Variant:12
- Variant:9
- Variant:7
- Variant:38
- CAID:CA288392
- FuncAssay:2
- CAID:CA348162
- ClinVarID:126741
- CAID:CA168501
- CAID:CA331799
- Variant:17
- CAID:CA269619
- Variant:3
- CAID:CA294183
- Variant:20
- ClinVarID:232977
- ClinVarID:126669
- Variant:6
- ClinVarID:126727
- ClinVarID:126699
- CAID:CA288386
- Variant:43
- Variant:4
- Variant:21
- CAID:CA395144524
- ClinVarID:126743
- Variant:8
- CAID:CA395139432
- ClinVarID:582957
- ClinVarID:126755
- Variant:27
- CAID:CA288504
- CAID:CA161315
- ValidationControl:Benign
- CAID:CA161333
- ClinVarID:241553
- CAID:CA269610
- Variant:10
- ClinVarID:183828
- ClinVarID:182774
- CAID:CA196624
- ClinVarID:126747
Annotators
URL
-
-
www.nature.com www.nature.com
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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: 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.
-
Source Data
AssayResult: 91.6
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 8.2
StandardErrorMean: 5.8
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 82.83
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 4.82
StandardErrorMean: 3.41
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 87.35
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 11.94
StandardErrorMean: 8.44
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 83.25
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 5.27
StandardErrorMean: 3.73
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 7.03
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 2.68
StandardErrorMean: 1.9
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 77.45
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 6.2
StandardErrorMean: 4.38
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 9.92
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 1.93
StandardErrorMean: 1.37
Comment: Exact values reported in “Source Data” file.
-
Source Data
AssayResult: 95.02
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 0.08
StandardErrorMean: 0.06
Comment: Exact values reported in “Source Data” file.
Tags
- CAID:CA279524947
- CAID:CA167348
- CAID:CA196291
- CAID:CA288478
- Variant:37
- Variant:33
- CAID:CA269654
- CAID:CA395141474
- Variant:56
- Variant:34
- ClinVarID:186840
- ClinVarID:922719
- ClinVarID:420826
- ClinVarID:126761
- Variant:32
- CAID:CA350039
- CAID:CA151250
- ClinVarID:126582
- CAID:CA279530867
- ClinVarID:484219
- CG:BulkAnnotation
- Variant:36
- Variant:60
- CAID:CA339433
- CAID:CA195974
- CAID:CA7963653
- CGType:FunctionalAssayResult
- CAID:CA923726356
- Variant:16
- Variant:1
- Variant:23
- CAID:CA395144208
- CAID:CA395144928
- Variant:64
- ClinVarID:182773
- ClinVarID:126758
- CAID:CA395125757
- ClinVarID:216752
- ClinVarID:128136
- Variant:42
- Variant:59
- Variant:46
- Variant:26
- CAID:CA151233
- ClinVarID:1245
- ClinVarID:1246
- Variant:28
- Variant:24
- Variant:70
- Variant:57
- ClinVarID:461007
- Variant:62
- ClinVarID:229718
- CAID:CA395144862
- ClinVarID:186939
- Variant:55
- Variant:38
- ClinVarID:126669
- Variant:67
- Variant:20
- ClinVarID:126699
- ClinVarID:126623
- CAID:CA395137855
- CAID:CA299747
- ClinVarID:460996
- CAID:CA269625
- CAID:CA251004
- CAID:CA164468
- CAID:CA294562
- CAID:CA299784
- CAID:CA151242
- ClinVarID:126738
- Variant:68
- Variant:53
- ClinVarID:134994
- Variant:30
- Variant:18
- CAID:CA151229
- CAID:CA395121845
- CAID:CA331796
- Variant:65
- Variant:51
- CAID:CA395142764
- Variant:45
- CAID:CA16620118
- ClinVarID:484164
- Variant:14
- ClinVarID:567901
- CAID:CA161342
- CAID:CA151230
- ClinVarID:126613
- Variant:69
- ClinVarID:230588
- CAID:CA192169
- ClinVarID:182786
- Variant:41
- ClinVarID:186824
- Variant:39
- ClinVarID:126774
- ClinVarID:182741
- ClinVarID:126749
- CAID:CA197176
- Variant:15
- Variant:47
- ClinVarID:142079
- CAID:CA269551
- Variant:66
- ClinVarID:126670
- Variant:40
- CAID:CA151239
- ClinVarID:126706
- CAID:CA7963465
- Variant:63
- Variant:19
- Variant:61
- CAID:CA161327
- Variant:25
- CAID:CA395122261
- Variant:44
- CAID:CA10579985
- ClinVarID:126683
- CAID:CA196017
- Variant:54
- Variant:35
- Variant:31
- CAID:CA395145110
- CAID:CA10579934
- FuncAssay:1
- ValidationControl:Pathogenic
- ClinVarID:484186
- Variant:22
- CAID:CA395137656
- Variant:29
- ClinVarID:126711
- Variant:58
- CAID:CA395137985
- CAID:CA494163316
- FuncAssay:2
- ClinVarID:219647
- CAID:CA395141313
- ClinVarID:126630
- CAID:CA395139673
- ClinVarID:185518
- Variant:17
- CAID:CA299663
- CAID:CA210470
- CAID:CA163622
- ClinVarID:232977
- CAID:CA10580054
- CAID:CA658658444
- CAID:CA151212
- Variant:48
- CAID:CA395141224
- Variant:43
- Variant:21
- Variant:49
- Variant:50
- ClinVarID:530038
- ClinVarID:187262
- CAID:CA161315
- Variant:27
- ValidationControl:Benign
- CAID:CA161333
- Variant:52
- ClinVarID:241553
- ClinVarID:126740
- ClinVarID:126747
Annotators
URL
-