Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358158
rs80358158
BRCA1
A 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: rs80358158
rs80358158
BRCA1
A 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: rs80358158
rs80358158
BRCA1
A 0.700 CausalMutation CLINVAR Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing. 24212087

2014
dbSNP: rs80358158
rs80358158
BRCA1
A 0.700 CausalMutation CLINVAR Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance. 20020529

2010
dbSNP: rs80358158
rs80358158
BRCA1
A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families. 16528604

2006
dbSNP: rs80358158
rs80358158
BRCA1
A 0.700 CausalMutation CLINVAR Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families. 16211554

2005
dbSNP: rs80358158
rs80358158
BRCA1
A 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
dbSNP: rs80358158
rs80358158
BRCA1
G 0.700 CausalMutation CLINVAR