Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR BRCA1 mutations in primary breast and ovarian carcinomas. 7939630

1994
dbSNP: rs41293463
rs41293463
BRCA1
C 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: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Structural basis for cell cycle checkpoint control by the BRCA1-CtIP complex. 16101277

2005
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women. 22010008

2011
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Mutations in the BRCT binding site of BRCA1 result in hyper-recombination. 21666281

2011
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. 15125843

2004
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. 15133502

2004
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR ATM activation by ionizing radiation requires BRCA1-associated BAAT1. 16452482

2006
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR BRCT repeats as phosphopeptide-binding modules involved in protein targeting. 14576432

2003
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852

2013
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling. 21520273

2011
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Evidence for a transcriptional activation function of BRCA1 C-terminal region. 8942979

1996
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. 11573086

2001
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Characterisation of gene expression profiles of yeast cells expressing BRCA1 missense variants. 19493677

2009
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. 16267036

2005
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. 14534301

2003
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Direct interaction between BRCA1 and the estrogen receptor regulates vascular endothelial growth factor (VEGF) transcription and secretion in breast cancer cells. 12400015

2002
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020

2004
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584

2010
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. 7545954

1994
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. 19491284

2009
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR A guide for functional analysis of BRCA1 variants of uncertain significance. 22753008

2012
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Classification of BRCA1 missense variants of unknown clinical significance. 15689452

2005
dbSNP: rs41293463
rs41293463
BRCA1
T 0.700 CausalMutation CLINVAR