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rs80359462

From SNPedia

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


Make rs80359462(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338993
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359462
ebirs80359462
HLIrs80359462
Exacrs80359462
Varsomers80359462
Maprs80359462
PheGenIrs80359462
hapmaprs80359462
1000 genomesrs80359462
hgdprs80359462
ensemblrs80359462
gopubmedrs80359462
geneviewrs80359462
scholarrs80359462
googlers80359462
pharmgkbrs80359462
gwascentralrs80359462
openSNPrs80359462
23andMers80359462
23andMe allrs80359462
SNP Nexus

SNPshotrs80359462
SNPdbers80359462
MSV3drs80359462
GWAS Ctlgrs80359462
Max Magnitude6
rs80359462, also known as 4866delT, c.4638_4638delT and p.Phe1546Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359462(;)
Alt rs80359462(;)
Reference rs80359462(T;T)
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.32913130delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031496.5, RCV000044457.4, RCV000163113.1,