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rs80358946

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358946(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32355033
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358946
ebirs80358946
HLIrs80358946
Exacrs80358946
Varsomers80358946
Maprs80358946
PheGenIrs80358946
hapmaprs80358946
1000 genomesrs80358946
hgdprs80358946
ensemblrs80358946
gopubmedrs80358946
geneviewrs80358946
scholarrs80358946
googlers80358946
pharmgkbrs80358946
gwascentralrs80358946
openSNPrs80358946
23andMers80358946
23andMe allrs80358946
SNP Nexus

SNPshotrs80358946
SNPdbers80358946
MSV3drs80358946
GWAS Ctlgrs80358946
Max Magnitude6
rs80358946, also known as R2394X, c.7180A>T and p.Arg2394Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358946(T;T)
Alt rs80358946(T;T)
Reference rs80358946(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32929170A>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000045156.2, RCV000077398.3, RCV000131033.2,