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rs80359565

From SNPedia

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


Make rs80359565(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340556
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359565
ebirs80359565
HLIrs80359565
Exacrs80359565
Varsomers80359565
Maprs80359565
PheGenIrs80359565
hapmaprs80359565
1000 genomesrs80359565
hgdprs80359565
ensemblrs80359565
gopubmedrs80359565
geneviewrs80359565
scholarrs80359565
googlers80359565
pharmgkbrs80359565
gwascentralrs80359565
openSNPrs80359565
23andMers80359565
23andMe allrs80359565
SNP Nexus

SNPshotrs80359565
SNPdbers80359565
MSV3drs80359565
GWAS Ctlgrs80359565
Max Magnitude6
rs80359565, also known as 6429delC, c.6201_6201delC and p.Ser2067=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359565(;)
Alt rs80359565(;)
Reference rs80359565(C;C)
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.32914693delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044865.2, RCV000113543.1, RCV000223404.1,