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rs80358407

From SNPedia

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


Make rs80358407(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332581
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358407
ebirs80358407
HLIrs80358407
Exacrs80358407
Varsomers80358407
Maprs80358407
PheGenIrs80358407
hapmaprs80358407
1000 genomesrs80358407
hgdprs80358407
ensemblrs80358407
gopubmedrs80358407
geneviewrs80358407
scholarrs80358407
googlers80358407
pharmgkbrs80358407
gwascentralrs80358407
openSNPrs80358407
23andMers80358407
23andMe allrs80358407
SNP Nexus

SNPshotrs80358407
SNPdbers80358407
MSV3drs80358407
GWAS Ctlgrs80358407
Max Magnitude6
rs80358407, also known as S368X, c.1103C>A and p.Ser368Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358407(A;A)
Alt rs80358407(A;A)
Reference rs80358407(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32906718C>A
CLNSRC ClinVar
CLNACC RCV000043738.3, RCV000112879.1, RCV000222511.1,