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rs80359717

From SNPedia

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


Make rs80359717(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32371028
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359717
ebirs80359717
HLIrs80359717
Exacrs80359717
Varsomers80359717
Maprs80359717
PheGenIrs80359717
hapmaprs80359717
1000 genomesrs80359717
hgdprs80359717
ensemblrs80359717
gopubmedrs80359717
geneviewrs80359717
scholarrs80359717
googlers80359717
pharmgkbrs80359717
gwascentralrs80359717
openSNPrs80359717
23andMers80359717
23andMe allrs80359717
SNP Nexus

SNPshotrs80359717
SNPdbers80359717
MSV3drs80359717
GWAS Ctlgrs80359717
Max Magnitude6
rs80359717, also known as 8788delT, c.8560_8560delT and p.Tyr2854Metfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359717(;)
Alt rs80359717(;)
Reference rs80359717(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.32945165delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045556.2, RCV000113960.1,