Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358150
rs80358150
BRCA1
T 0.700 CausalMutation CLINVAR Functional characterization of BRCA1 gene variants by mini-gene splicing assay. 24667779

2014
dbSNP: rs80358150
rs80358150
BRCA1
T 0.700 CausalMutation CLINVAR Prediction of mutant mRNA splice isoforms by information theory-based exon definition. 23348723

2013
dbSNP: rs80358150
rs80358150
BRCA1
T 0.700 CausalMutation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134

2012
dbSNP: rs80358150
rs80358150
BRCA1
T 0.700 CausalMutation CLINVAR A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. 20215541

2010
dbSNP: rs80358150
rs80358150
BRCA1
T 0.700 CausalMutation CLINVAR A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 17924331

2007
dbSNP: rs80358150
rs80358150
BRCA1
T 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: rs80358150
rs80358150
BRCA1
T 0.700 CausalMutation 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: rs80358150
rs80358150
BRCA1
T 0.700 CausalMutation CLINVAR Spanish family study on hereditary breast and/or ovarian cancer: analysis of the BRCA1 gene. 11149413

2001