Source: CLINVAR ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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G | 0.700 | CausalMutation | CLINVAR | Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. | 28339459 | 2017 |
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C | 0.700 | GeneticVariation | CLINVAR | Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | 26681312 | 2016 |
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G | 0.700 | CausalMutation | CLINVAR | In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample. | 27886673 | 2016 |
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G | 0.700 | CausalMutation | CLINVAR | Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. | 25452441 | 2015 |
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G | 0.700 | CausalMutation | CLINVAR | An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance. | 25146914 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. | 23108138 | 2013 |
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C | 0.700 | GeneticVariation | CLINVAR | Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines. | 23893897 | 2013 |
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|
C | 0.700 | GeneticVariation | CLINVAR | A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. | 23108138 | 2013 |
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C | 0.700 | GeneticVariation | CLINVAR | A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. | 21702907 | 2011 |
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G | 0.700 | CausalMutation | CLINVAR | Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. | 20513136 | 2010 |
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|
G | 0.700 | CausalMutation | CLINVAR | Functional assays for classification of BRCA2 variants of uncertain significance. | 18451181 | 2008 |
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C | 0.700 | GeneticVariation | CLINVAR | Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. | 19043619 | 2008 |
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C | 0.700 | GeneticVariation | CLINVAR | Computational and structural investigation of deleterious functional SNPs in breast cancer BRCA2 gene. | 18724707 | 2008 |
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C | 0.700 | GeneticVariation | CLINVAR | Functional assays for classification of BRCA2 variants of uncertain significance. | 18451181 | 2008 |
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G | 0.700 | CausalMutation | CLINVAR | A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. | 17924331 | 2007 |