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rs80359200

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 BRCA2 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer


Make rs80359200(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394726
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359200
ebirs80359200
HLIrs80359200
Exacrs80359200
Varsomers80359200
Maprs80359200
PheGenIrs80359200
hapmaprs80359200
1000 genomesrs80359200
hgdprs80359200
ensemblrs80359200
gopubmedrs80359200
geneviewrs80359200
scholarrs80359200
googlers80359200
pharmgkbrs80359200
gwascentralrs80359200
openSNPrs80359200
23andMers80359200
23andMe allrs80359200
SNP Nexus

SNPshotrs80359200
SNPdbers80359200
MSV3drs80359200
GWAS Ctlgrs80359200
Max Magnitude6
rs80359200, also known as Y3098X, c.9294C>G and p.Tyr3098Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359200(A;A) rs80359200(G;G)
Alt rs80359200(A;A) rs80359200(G;G)
Reference Rs80359200(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed 0
HGVS NC_000013.10:g.32968863C>A; NC_000013.10:g.32968863C>G
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000031811.6, RCV000045783.2, RCV000031812.6, RCV000045784.4, RCV000074562.6, RCV000131041.3, RCV000210096.1,