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rs80359609

From SNPedia

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


Make rs80359609(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32329473
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359609
ebirs80359609
HLIrs80359609
Exacrs80359609
Varsomers80359609
Maprs80359609
PheGenIrs80359609
hapmaprs80359609
1000 genomesrs80359609
hgdprs80359609
ensemblrs80359609
gopubmedrs80359609
geneviewrs80359609
scholarrs80359609
googlers80359609
pharmgkbrs80359609
gwascentralrs80359609
openSNPrs80359609
23andMers80359609
23andMe allrs80359609
SNP Nexus

SNPshotrs80359609
SNPdbers80359609
MSV3drs80359609
GWAS Ctlgrs80359609
Max Magnitude6
rs80359609, also known as 890delTT, c.662_663delTT and p.Phe221Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359609(;)
Alt rs80359609(;)
Reference rs80359609(TT;TT)
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.32903610_32903611delTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044997.2, RCV000113987.1, RCV000214324.1,