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rs80359468

From SNPedia

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


Make rs80359468(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339184
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359468
ebirs80359468
HLIrs80359468
Exacrs80359468
Varsomers80359468
Maprs80359468
PheGenIrs80359468
hapmaprs80359468
1000 genomesrs80359468
hgdprs80359468
ensemblrs80359468
gopubmedrs80359468
geneviewrs80359468
scholarrs80359468
googlers80359468
pharmgkbrs80359468
gwascentralrs80359468
openSNPrs80359468
23andMers80359468
23andMe allrs80359468
SNP Nexus

SNPshotrs80359468
SNPdbers80359468
MSV3drs80359468
GWAS Ctlgrs80359468
Max Magnitude6
rs80359468, also known as 5057delTG, c.4829_4830delTG and p.Val1610Glyfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359468(;)
Alt rs80359468(;)
Reference rs80359468(TG;TG)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32913321_32913322delTG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044500.3, RCV000077338.5, RCV000162922.1, RCV000217237.1,