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rs80358419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358419(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332739
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358419
ebirs80358419
HLIrs80358419
Exacrs80358419
Varsomers80358419
Maprs80358419
PheGenIrs80358419
hapmaprs80358419
1000 genomesrs80358419
hgdprs80358419
ensemblrs80358419
gopubmedrs80358419
geneviewrs80358419
scholarrs80358419
googlers80358419
pharmgkbrs80358419
gwascentralrs80358419
openSNPrs80358419
23andMers80358419
23andMe allrs80358419
SNP Nexus

SNPshotrs80358419
SNPdbers80358419
MSV3drs80358419
GWAS Ctlgrs80358419
Max Magnitude6
rs80358419, also known as Q421X, c.1261C>T and p.Gln421Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358419(G,T;G,T)
Alt rs80358419(G,T;G,T)
Reference rs80358419(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32906876C>G; NC_000013.10:g.32906876C>T
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000077657.2, RCV000223427.1, RCV000043769.2, RCV000112900.1, RCV000131850.2,