Have questions? Visit https://www.reddit.com/r/SNPedia

rs80358474

From SNPedia

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


Make rs80358474(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333310
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358474
ebirs80358474
HLIrs80358474
Exacrs80358474
Varsomers80358474
Maprs80358474
PheGenIrs80358474
hapmaprs80358474
1000 genomesrs80358474
hgdprs80358474
ensemblrs80358474
gopubmedrs80358474
geneviewrs80358474
scholarrs80358474
googlers80358474
pharmgkbrs80358474
gwascentralrs80358474
openSNPrs80358474
23andMers80358474
23andMe allrs80358474
SNP Nexus

SNPshotrs80358474
SNPdbers80358474
MSV3drs80358474
GWAS Ctlgrs80358474
Max Magnitude6
rs80358474, also known as S611X, c.1832C>A and p.Ser611Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358474(A,T;A,T)
Alt rs80358474(A,T;A,T)
Reference rs80358474(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32907447C>A; NC_000013.10:g.32907447C>G
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031345.5, RCV000043906.4, RCV000131056.2, RCV000212216.1, RCV000213224.1,