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rs80359272

From SNPedia

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


Make rs80359272(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332735
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359272
ebirs80359272
HLIrs80359272
Exacrs80359272
Varsomers80359272
Maprs80359272
PheGenIrs80359272
hapmaprs80359272
1000 genomesrs80359272
hgdprs80359272
ensemblrs80359272
gopubmedrs80359272
geneviewrs80359272
scholarrs80359272
googlers80359272
pharmgkbrs80359272
gwascentralrs80359272
openSNPrs80359272
23andMers80359272
23andMe allrs80359272
SNP Nexus

SNPshotrs80359272
SNPdbers80359272
MSV3drs80359272
GWAS Ctlgrs80359272
Max Magnitude6
rs80359272, also known as 1485delT, c.1257_1257delT and p.Cys419Trpfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359272(;)
Alt rs80359272(;)
Reference rs80359272(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.32906872delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031314.4, RCV000043768.4, RCV000130282.2,