| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2. | 23704879 | 2013 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. | 22505045 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study. | 19471317 | 2009 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). | 22762150 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. | 22711857 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants. | 21523855 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families. | 24607278 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | 21990134 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. | 31131967 | 2019 |
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|
A | 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 |
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|
T | 0.700 | CausalMutation | CLINVAR |