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rs80359720

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359720(-;-)
Make rs80359720(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32371053
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359720
ebirs80359720
HLIrs80359720
Exacrs80359720
Varsomers80359720
Maprs80359720
PheGenIrs80359720
hapmaprs80359720
1000 genomesrs80359720
hgdprs80359720
ensemblrs80359720
gopubmedrs80359720
geneviewrs80359720
scholarrs80359720
googlers80359720
pharmgkbrs80359720
gwascentralrs80359720
openSNPrs80359720
23andMers80359720
23andMe allrs80359720
SNP Nexus

SNPshotrs80359720
SNPdbers80359720
MSV3drs80359720
GWAS Ctlgrs80359720
Max Magnitude6
rs80359720, also known as 8813insT, c.8585_8586insT and p.Leu2862?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359720(T;T)
Alt rs80359720(T;T)
Reference rs80359720(;)
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.32945190dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031753.6, RCV000045566.3, RCV000218001.1,