Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs55851803
rs55851803
T 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

dbSNP: rs55851803
rs55851803
T 0.700 GeneticVariation CLINVAR Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. 27272900

2016

dbSNP: rs55851803
rs55851803
T 0.700 GeneticVariation CLINVAR Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. 25823446

2015

dbSNP: rs55851803
rs55851803
T 0.700 GeneticVariation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014

dbSNP: rs55851803
rs55851803
T 0.700 GeneticVariation CLINVAR Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer. 23192404

2013

dbSNP: rs55851803
rs55851803
T 0.700 GeneticVariation CLINVAR Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families. 22923021

2012

dbSNP: rs55851803
rs55851803
T 0.700 GeneticVariation CLINVAR High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. 22034289

2012

dbSNP: rs55851803
rs55851803
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

dbSNP: rs55851803
rs55851803
T 0.700 GeneticVariation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020

2004

dbSNP: rs55851803
rs55851803
T 0.700 GeneticVariation CLINVAR BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect. 15131401

2004

dbSNP: rs55851803
rs55851803
T 0.700 GeneticVariation CLINVAR Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. 11320250

2001

dbSNP: rs55851803
rs55851803
T 0.700 GeneticVariation CLINVAR BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers. 11106241

2000