Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk. 30257991

2019

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance. 30458859

2018

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. 28490613

2018

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. 27495310

2017

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. 28283652

2017

dbSNP: rs41293459
rs41293459
T 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

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. 24504028

2014

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013

dbSNP: rs41293459
rs41293459
T 0.700 GeneticVariation CLINVAR BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. 22889855

2012

dbSNP: rs41293459
rs41293459
T 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

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. 22889855

2012

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Mechanisms of BRCA1 tumor suppression. 22843421

2012

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation 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: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155. 21946536

2011

dbSNP: rs41293459
rs41293459
T 0.700 GeneticVariation CLINVAR Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155. 21946536

2011

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition. 21473589

2011

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations. 20455026

2010

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Toward classification of BRCA1 missense variants using a biophysical approach. 20378548

2010

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history. 19200354

2009

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example. 19563646

2009

dbSNP: rs41293459
rs41293459
T 0.700 GeneticVariation CLINVAR Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? 18036263

2007

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? 18036263

2007

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. 17308087

2007