Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358083
rs80358083
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Functional characterization of BRCA1 gene variants by mini-gene splicing assay. 24667779

2014
dbSNP: rs80358083
rs80358083
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Prediction of mutant mRNA splice isoforms by information theory-based exon definition. 23348723

2013
dbSNP: rs80358083
rs80358083
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 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: rs80358083
rs80358083
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 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: rs80358083
rs80358083
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. 21673748

2011
dbSNP: rs80358083
rs80358083
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. 23199084

2010
dbSNP: rs80358083
rs80358083
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 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: rs80358083
rs80358083
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 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: rs80358083
rs80358083
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression. 16619214

2006
dbSNP: rs80358083
rs80358083
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families. 15026808

2004
dbSNP: rs80358083
rs80358083
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G. 10595255

1999
dbSNP: rs80358083
rs80358083
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. 9150151

1997