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rs80359706

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359706(-;-)
Make rs80359706(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363524
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359706
ebirs80359706
HLIrs80359706
Exacrs80359706
Varsomers80359706
Maprs80359706
PheGenIrs80359706
hapmaprs80359706
1000 genomesrs80359706
hgdprs80359706
ensemblrs80359706
gopubmedrs80359706
geneviewrs80359706
scholarrs80359706
googlers80359706
pharmgkbrs80359706
gwascentralrs80359706
openSNPrs80359706
23andMers80359706
23andMe allrs80359706
SNP Nexus

SNPshotrs80359706
SNPdbers80359706
MSV3drs80359706
GWAS Ctlgrs80359706
Max Magnitude6
rs80359706, also known as 8550insT, c.8322_8323insT and p.Leu2774_Met2775?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359706(T;T)
Alt rs80359706(T;T)
Reference rs80359706(;)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32937661dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031736.4, RCV000045472.2, RCV000220249.1,