Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357112
rs80357112
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: rs80357112
rs80357112
BRCA1
T 0.700 GeneticVariation CLINVAR Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice. 25504618

2015
dbSNP: rs80357112
rs80357112
BRCA1
T 0.700 GeneticVariation CLINVAR Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic. 25724305

2015
dbSNP: rs80357112
rs80357112
BRCA1
T 0.700 GeneticVariation CLINVAR Protein stability versus function: effects of destabilizing missense mutations on BRCA1 DNA repair activity. 25748678

2015
dbSNP: rs80357112
rs80357112
BRCA1
T 0.700 GeneticVariation CLINVAR BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families. 22684231

2012
dbSNP: rs80357112
rs80357112
BRCA1
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: rs80357112
rs80357112
BRCA1
T 0.700 GeneticVariation CLINVAR Toward classification of BRCA1 missense variants using a biophysical approach. 20378548

2010
dbSNP: rs80357112
rs80357112
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: rs80357112
rs80357112
BRCA1
T 0.700 GeneticVariation CLINVAR Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. 18285836

2008
dbSNP: rs80357112
rs80357112
BRCA1
T 0.700 GeneticVariation CLINVAR Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms. 18403564

2008
dbSNP: rs80357112
rs80357112
BRCA1
T 0.700 GeneticVariation CLINVAR Functional impact of missense variants in BRCA1 predicted by supervised learning. 17305420

2007
dbSNP: rs80357112
rs80357112
BRCA1
T 0.700 GeneticVariation CLINVAR Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. 15172985

2004
dbSNP: rs80357112
rs80357112
BRCA1
T 0.700 GeneticVariation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020

2004