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rs80359621

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359621(-;-)
Make rs80359621(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32341037
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359621
ebirs80359621
HLIrs80359621
Exacrs80359621
Varsomers80359621
Maprs80359621
PheGenIrs80359621
hapmaprs80359621
1000 genomesrs80359621
hgdprs80359621
ensemblrs80359621
gopubmedrs80359621
geneviewrs80359621
scholarrs80359621
googlers80359621
pharmgkbrs80359621
gwascentralrs80359621
openSNPrs80359621
23andMers80359621
23andMe allrs80359621
SNP Nexus

SNPshotrs80359621
SNPdbers80359621
MSV3drs80359621
GWAS Ctlgrs80359621
Max Magnitude6
rs80359621, also known as 6910insG, c.6682_6683insG and p.Val2228?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359621(G;G)
Alt rs80359621(G;G)
Reference rs80359621(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32915174dupG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045016.2, RCV000113628.1, RCV000218189.1,