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rs80358516

From SNPedia

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


Make rs80358516(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336872
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358516
ebirs80358516
HLIrs80358516
Exacrs80358516
Varsomers80358516
Maprs80358516
PheGenIrs80358516
hapmaprs80358516
1000 genomesrs80358516
hgdprs80358516
ensemblrs80358516
gopubmedrs80358516
geneviewrs80358516
scholarrs80358516
googlers80358516
pharmgkbrs80358516
gwascentralrs80358516
openSNPrs80358516
23andMers80358516
23andMe allrs80358516
SNP Nexus

SNPshotrs80358516
SNPdbers80358516
MSV3drs80358516
GWAS Ctlgrs80358516
Max Magnitude6
rs80358516, also known as Y839X, c.2517C>A and p.Tyr839Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358516(A;A)
Alt rs80358516(A;A)
Reference rs80358516(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32911009C>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000044008.2, RCV000113053.1, RCV000131057.2, RCV000223462.1,