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rs80358532

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358532(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337173
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358532
ebirs80358532
HLIrs80358532
Exacrs80358532
Varsomers80358532
Maprs80358532
PheGenIrs80358532
hapmaprs80358532
1000 genomesrs80358532
hgdprs80358532
ensemblrs80358532
gopubmedrs80358532
geneviewrs80358532
scholarrs80358532
googlers80358532
pharmgkbrs80358532
gwascentralrs80358532
openSNPrs80358532
23andMers80358532
23andMe allrs80358532
SNP Nexus

SNPshotrs80358532
SNPdbers80358532
MSV3drs80358532
GWAS Ctlgrs80358532
Max Magnitude6
rs80358532, also known as Q940X, c.2818C>T and p.Gln940Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358532(T;T)
Alt rs80358532(T;T)
Reference rs80358532(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32911310C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031385.4, RCV000044068.3, RCV000131103.2,