Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358047
rs80358047
BRCA1
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: rs80358047
rs80358047
BRCA1
T 0.700 CausalMutation CLINVAR Functional characterization of BRCA1 gene variants by mini-gene splicing assay. 24667779

2014
dbSNP: rs80358047
rs80358047
BRCA1
T 0.700 CausalMutation CLINVAR Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations. 23451180

2013
dbSNP: rs80358047
rs80358047
BRCA1
T 0.700 CausalMutation CLINVAR Double heterozygosity in the BRCA1 and BRCA2 genes in Italian family. 23940062

2013
dbSNP: rs80358047
rs80358047
BRCA1
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: rs80358047
rs80358047
BRCA1
T 0.700 CausalMutation CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879

2012
dbSNP: rs80358047
rs80358047
BRCA1
T 0.700 CausalMutation CLINVAR A characterization of genetic variants in BRCA1 intron 8 identifies a mutation and a polymorphism. 10479726

1999
dbSNP: rs80358047
rs80358047
BRCA1
T 0.700 CausalMutation CLINVAR BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. 9333265

1997