Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356959
rs80356959
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010
dbSNP: rs80356959
rs80356959
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Functional impact of missense variants in BRCA1 predicted by supervised learning. 17305420

2007
dbSNP: rs80356959
rs80356959
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. 27741520

2016
dbSNP: rs80356959
rs80356959
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Toward classification of BRCA1 missense variants using a biophysical approach. 20378548

2010
dbSNP: rs80356959
rs80356959
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Identification of seven new BRCA1 germline mutations in Italian breast and breast/ovarian cancer families. 8968102

1996
dbSNP: rs80356959
rs80356959
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Targeting the DNA double strand breaks repair for cancer therapy. 20423312

2010
dbSNP: rs80356959
rs80356959
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. 28781887

2016