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rs80359763

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GT) 6 BRCA2 variant considered pathogenic for breast cancer
(GT;GT) 0 common in clinvar
(TG;TG) 0 common in clinvar


Make rs80359763(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394867
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359763
ebirs80359763
HLIrs80359763
Exacrs80359763
Varsomers80359763
Maprs80359763
PheGenIrs80359763
hapmaprs80359763
1000 genomesrs80359763
hgdprs80359763
ensemblrs80359763
gopubmedrs80359763
geneviewrs80359763
scholarrs80359763
googlers80359763
pharmgkbrs80359763
gwascentralrs80359763
openSNPrs80359763
23andMers80359763
23andMe allrs80359763
SNP Nexus

SNPshotrs80359763
SNPdbers80359763
MSV3drs80359763
GWAS Ctlgrs80359763
Max Magnitude6
rs80359763, also known as 9663delGT, c.9435_9436delGT and p.Val3145_Phe3146=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359763(;)
Alt rs80359763(;)
Reference rs80359763(TG;TG)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not provided
Reversed 0
HGVS NC_000013.10:g.32969004_32969005delGT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031823.4, RCV000074563.5, RCV000131046.2, RCV000205868.1, RCV000210147.1, RCV000235145.1,