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rs80359295

From SNPedia

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


Make rs80359295(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333109
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359295
ebirs80359295
HLIrs80359295
Exacrs80359295
Varsomers80359295
Maprs80359295
PheGenIrs80359295
hapmaprs80359295
1000 genomesrs80359295
hgdprs80359295
ensemblrs80359295
gopubmedrs80359295
geneviewrs80359295
scholarrs80359295
googlers80359295
pharmgkbrs80359295
gwascentralrs80359295
openSNPrs80359295
23andMers80359295
23andMe allrs80359295
SNP Nexus

SNPshotrs80359295
SNPdbers80359295
MSV3drs80359295
GWAS Ctlgrs80359295
Max Magnitude6
rs80359295, also known as 1859delCT, c.1631_1632delCT and p.Thr544Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359295(;)
Alt rs80359295(;)
Reference rs80359295(CT;CT)
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.32907246_32907247delCT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043848.2, RCV000112945.1, RCV000213325.1,