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rs80359490

From SNPedia

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


Make rs80359490(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339519
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359490
ebirs80359490
HLIrs80359490
Exacrs80359490
Varsomers80359490
Maprs80359490
PheGenIrs80359490
hapmaprs80359490
1000 genomesrs80359490
hgdprs80359490
ensemblrs80359490
gopubmedrs80359490
geneviewrs80359490
scholarrs80359490
googlers80359490
pharmgkbrs80359490
gwascentralrs80359490
openSNPrs80359490
23andMers80359490
23andMe allrs80359490
SNP Nexus

SNPshotrs80359490
SNPdbers80359490
MSV3drs80359490
GWAS Ctlgrs80359490
Max Magnitude6
rs80359490, also known as 5392delAG, c.5164_5165delAG and p.Ser1722Tyrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359490(;)
Alt rs80359490(;)
Reference rs80359490(AG;AG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32913656_32913657delAG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044579.2, RCV000077346.4, RCV000216136.1,