Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45444999
rs45444999
BRCA1
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: rs45444999
rs45444999
BRCA1
T 0.700 GeneticVariation CLINVAR Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants. 26913838

2016
dbSNP: rs45444999
rs45444999
BRCA1
T 0.700 GeneticVariation CLINVAR Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1. 24845084

2014
dbSNP: rs45444999
rs45444999
BRCA1
T 0.700 GeneticVariation CLINVAR The BRCA1 S1715N mutation segregates with breast and ovarian cancer in an extended family pedigree. 22856468

2013
dbSNP: rs45444999
rs45444999
BRCA1
T 0.700 GeneticVariation CLINVAR A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. 21447777

2011
dbSNP: rs45444999
rs45444999
BRCA1
T 0.700 GeneticVariation CLINVAR Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. 21673748

2011
dbSNP: rs45444999
rs45444999
BRCA1
T 0.700 GeneticVariation CLINVAR Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants. 21523855

2011
dbSNP: rs45444999
rs45444999
BRCA1
T 0.700 GeneticVariation CLINVAR Toward classification of BRCA1 missense variants using a biophysical approach. 20378548

2010
dbSNP: rs45444999
rs45444999
BRCA1
T 0.700 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010
dbSNP: rs45444999
rs45444999
BRCA1
T 0.700 GeneticVariation 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: rs45444999
rs45444999
BRCA1
T 0.700 GeneticVariation CLINVAR Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. 12955716

2003
dbSNP: rs45444999
rs45444999
BRCA1
T 0.700 GeneticVariation CLINVAR RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain. 12955719

2003
dbSNP: rs45444999
rs45444999
BRCA1
T 0.700 GeneticVariation CLINVAR Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. 11157798

2001