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rs80358815

From SNPedia

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


Make rs80358815(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340219
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358815
ebirs80358815
HLIrs80358815
Exacrs80358815
Varsomers80358815
Maprs80358815
PheGenIrs80358815
hapmaprs80358815
1000 genomesrs80358815
hgdprs80358815
ensemblrs80358815
gopubmedrs80358815
geneviewrs80358815
scholarrs80358815
googlers80358815
pharmgkbrs80358815
gwascentralrs80358815
openSNPrs80358815
23andMers80358815
23andMe allrs80358815
SNP Nexus

SNPshotrs80358815
SNPdbers80358815
MSV3drs80358815
GWAS Ctlgrs80358815
Max Magnitude6
rs80358815, also known as S1955X, c.5864C>A and p.Ser1955Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358815(A,G;A,G)
Alt rs80358815(A,G;A,G)
Reference rs80358815(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32914356C>A; NC_000013.10:g.32914356C>G
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000044777.3, RCV000077364.6, RCV000162927.1, RCV000221022.1, RCV000044778.2, RCV000131666.2,