BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs81002823
rs81002823
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		G 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: rs81002823
rs81002823
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 GeneticVariation CLINVAR Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants. 26913838 2016
dbSNP: rs81002823
rs81002823
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 GeneticVariation 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: rs81002823
rs81002823
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		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: rs81002823
rs81002823
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 GeneticVariation 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: rs81002823
rs81002823
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 GeneticVariation CLINVAR Multiple sequence variants of BRCA2 exon 7 alter splicing regulation. 22962691 2012
dbSNP: rs81002823
rs81002823
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 GeneticVariation CLINVAR An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directions. 21934105 2011
dbSNP: rs81002823
rs81002823
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 GeneticVariation CLINVAR Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants. 21523855 2011
dbSNP: rs81002823
rs81002823
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 GeneticVariation CLINVAR BRCA2 splice site mutations in an Italian breast/ovarian cancer family. 19542536 2009
dbSNP: rs81002823
rs81002823
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 GeneticVariation CLINVAR An unusual BRCA2 allele carrying two splice site mutations. 19423647 2009
dbSNP: rs81002823
rs81002823
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 GeneticVariation CLINVAR Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling. 19179552 2009