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rs80359315

From SNPedia

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


Make rs80359315(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333367
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359315
ebirs80359315
HLIrs80359315
Exacrs80359315
Varsomers80359315
Maprs80359315
PheGenIrs80359315
hapmaprs80359315
1000 genomesrs80359315
hgdprs80359315
ensemblrs80359315
gopubmedrs80359315
geneviewrs80359315
scholarrs80359315
googlers80359315
pharmgkbrs80359315
gwascentralrs80359315
openSNPrs80359315
23andMers80359315
23andMe allrs80359315
SNP Nexus

SNPshotrs80359315
SNPdbers80359315
MSV3drs80359315
GWAS Ctlgrs80359315
Max Magnitude6
rs80359315, also known as 2117delC, c.1889_1889delC and p.Thr630Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359315(;)
Alt rs80359315(;)
Reference rs80359315(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32907504delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043918.3, RCV000077271.3, RCV000221409.1,