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rs80359474

From SNPedia

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


Make rs80359474(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339302
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359474
ebirs80359474
HLIrs80359474
Exacrs80359474
Varsomers80359474
Maprs80359474
PheGenIrs80359474
hapmaprs80359474
1000 genomesrs80359474
hgdprs80359474
ensemblrs80359474
gopubmedrs80359474
geneviewrs80359474
scholarrs80359474
googlers80359474
pharmgkbrs80359474
gwascentralrs80359474
openSNPrs80359474
23andMers80359474
23andMe allrs80359474
SNP Nexus

SNPshotrs80359474
SNPdbers80359474
MSV3drs80359474
GWAS Ctlgrs80359474
Max Magnitude6
rs80359474, also known as 5175delAA, c.4947_4948delAA and p.Lys1649_Ser1650=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359474(;)
Alt rs80359474(;)
Reference rs80359474(AA;AA)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32913439_32913440delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044529.3, RCV000113361.1, RCV000131072.2,