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

rs80358972

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358972(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32356472
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358972
ebirs80358972
HLIrs80358972
Exacrs80358972
Varsomers80358972
Maprs80358972
PheGenIrs80358972
hapmaprs80358972
1000 genomesrs80358972
hgdprs80358972
ensemblrs80358972
gopubmedrs80358972
geneviewrs80358972
scholarrs80358972
googlers80358972
pharmgkbrs80358972
gwascentralrs80358972
openSNPrs80358972
23andMers80358972
23andMe allrs80358972
SNP Nexus

SNPshotrs80358972
SNPdbers80358972
MSV3drs80358972
GWAS Ctlgrs80358972
Max Magnitude6
rs80358972, also known as R2494X, c.7480C>T and p.Arg2494Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358972(A,T;A,T)
Alt rs80358972(A,T;A,T)
Reference rs80358972(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32930609C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031681.7, RCV000045227.5, RCV000131084.2, RCV000225750.1,