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rs80359398

From SNPedia

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


Make rs80359398(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338044
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359398
ebirs80359398
HLIrs80359398
Exacrs80359398
Varsomers80359398
Maprs80359398
PheGenIrs80359398
hapmaprs80359398
1000 genomesrs80359398
hgdprs80359398
ensemblrs80359398
gopubmedrs80359398
geneviewrs80359398
scholarrs80359398
googlers80359398
pharmgkbrs80359398
gwascentralrs80359398
openSNPrs80359398
23andMers80359398
23andMe allrs80359398
SNP Nexus

SNPshotrs80359398
SNPdbers80359398
MSV3drs80359398
GWAS Ctlgrs80359398
Max Magnitude6
rs80359398, also known as 3917delC, c.3689_3689delC and p.Ser1230Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359398(;)
Alt rs80359398(;)
Reference rs80359398(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32912181delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031434.5, RCV000044245.2, RCV000129939.2, RCV000219035.1,