Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800751
rs1800751
BRCA1
C 0.700 GeneticVariation CLINVAR BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. 29339979

2018
dbSNP: rs1800751
rs1800751
BRCA1
C 0.700 GeneticVariation CLINVAR Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. 27495310

2017
dbSNP: rs1800751
rs1800751
BRCA1
C 0.700 GeneticVariation CLINVAR Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. 28781887

2016
dbSNP: rs1800751
rs1800751
BRCA1
C 0.700 GeneticVariation CLINVAR Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases. 23536787

2013
dbSNP: rs1800751
rs1800751
BRCA1
C 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: rs1800751
rs1800751
BRCA1
C 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: rs1800751
rs1800751
BRCA1
C 0.700 GeneticVariation CLINVAR A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. 21447777

2011
dbSNP: rs1800751
rs1800751
BRCA1
C 0.700 GeneticVariation CLINVAR The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements. 20522429

2010
dbSNP: rs1800751
rs1800751
BRCA1
C 0.700 GeneticVariation CLINVAR Characterization of cancer-linked BRCA1-BRCT missense variants and their interaction with phosphoprotein targets. 19452558

2009
dbSNP: rs1800751
rs1800751
BRCA1
C 0.700 GeneticVariation CLINVAR The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews. 17020472

2006
dbSNP: rs1800751
rs1800751
BRCA1
C 0.700 GeneticVariation CLINVAR Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. 15133502

2004
dbSNP: rs1800751
rs1800751
BRCA1
C 0.700 GeneticVariation CLINVAR Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations. 14517958

2003
dbSNP: rs1800751
rs1800751
BRCA1
C 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