Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359576

From SNPedia

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


Make rs80359576(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340707
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359576
ebirs80359576
HLIrs80359576
Exacrs80359576
Varsomers80359576
Maprs80359576
PheGenIrs80359576
hapmaprs80359576
1000 genomesrs80359576
hgdprs80359576
ensemblrs80359576
gopubmedrs80359576
geneviewrs80359576
scholarrs80359576
googlers80359576
pharmgkbrs80359576
gwascentralrs80359576
openSNPrs80359576
23andMers80359576
23andMe allrs80359576
SNP Nexus

SNPshotrs80359576
SNPdbers80359576
MSV3drs80359576
GWAS Ctlgrs80359576
Max Magnitude6
rs80359576, also known as 6580delGT, c.6352_6353delGT and p.Val2118Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359576(;)
Alt rs80359576(;)
Reference rs80359576(TG;TG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations not provided
Reversed 0
HGVS NC_000013.10:g.32914844_32914845delGT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044921.2, RCV000113578.1, RCV000217850.1, RCV000237021.1,