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rs80359540

From SNPedia

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


Make rs80359540(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340178
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359540
ebirs80359540
HLIrs80359540
Exacrs80359540
Varsomers80359540
Maprs80359540
PheGenIrs80359540
hapmaprs80359540
1000 genomesrs80359540
hgdprs80359540
ensemblrs80359540
gopubmedrs80359540
geneviewrs80359540
scholarrs80359540
googlers80359540
pharmgkbrs80359540
gwascentralrs80359540
openSNPrs80359540
23andMers80359540
23andMe allrs80359540
SNP Nexus

SNPshotrs80359540
SNPdbers80359540
MSV3drs80359540
GWAS Ctlgrs80359540
Max Magnitude6
rs80359540, also known as 6051delA, c.5823_5823delA and p.Lys1941=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359540(;)
Alt rs80359540(;)
Reference rs80359540(A;A)
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.32914315delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044765.2, RCV000113489.1, RCV000217033.1,