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rs80359062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359062(C;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363367
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359062
ebirs80359062
HLIrs80359062
Exacrs80359062
Varsomers80359062
Maprs80359062
PheGenIrs80359062
hapmaprs80359062
1000 genomesrs80359062
hgdprs80359062
ensemblrs80359062
gopubmedrs80359062
geneviewrs80359062
scholarrs80359062
googlers80359062
pharmgkbrs80359062
gwascentralrs80359062
openSNPrs80359062
23andMers80359062
23andMe allrs80359062
SNP Nexus

SNPshotrs80359062
SNPdbers80359062
MSV3drs80359062
GWAS Ctlgrs80359062
Max Magnitude6

rs80359062, also known as c.8165C>G or p.Thr2722Arg, is a rare mutation in the BRCA2 gene.

The minor/rare allele is considered pathogenic for breast cancer by ClinVar.

OMIM600185
Desc
Variant0025
Relatedalso
ClinVar
Risk rs80359062(G;G)
Alt rs80359062(G;G)
Reference rs80359062(C;C)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32937504C>A; NC_000013.10:g.32937504C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000219871.1, RCV000031723.6, RCV000045435.2, RCV000163026.1,