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rs80359695

From SNPedia

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


Make rs80359695(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363289
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359695
ebirs80359695
HLIrs80359695
Exacrs80359695
Varsomers80359695
Maprs80359695
PheGenIrs80359695
hapmaprs80359695
1000 genomesrs80359695
hgdprs80359695
ensemblrs80359695
gopubmedrs80359695
geneviewrs80359695
scholarrs80359695
googlers80359695
pharmgkbrs80359695
gwascentralrs80359695
openSNPrs80359695
23andMers80359695
23andMe allrs80359695
SNP Nexus

SNPshotrs80359695
SNPdbers80359695
MSV3drs80359695
GWAS Ctlgrs80359695
Max Magnitude6
rs80359695, also known as 8315delT, c.8087_8087delT and p.Leu2696Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359695(;)
Alt rs80359695(;)
Reference rs80359695(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32937426delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045419.2, RCV000113871.1,