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rs80359274

From SNPedia

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


Make rs80359274(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332756
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359274
ebirs80359274
HLIrs80359274
Exacrs80359274
Varsomers80359274
Maprs80359274
PheGenIrs80359274
hapmaprs80359274
1000 genomesrs80359274
hgdprs80359274
ensemblrs80359274
gopubmedrs80359274
geneviewrs80359274
scholarrs80359274
googlers80359274
pharmgkbrs80359274
gwascentralrs80359274
openSNPrs80359274
23andMers80359274
23andMe allrs80359274
SNP Nexus

SNPshotrs80359274
SNPdbers80359274
MSV3drs80359274
GWAS Ctlgrs80359274
Max Magnitude6
rs80359274, also known as 1506delA, c.1278_1278delA and p.Lys426=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359274(;)
Alt rs80359274(;)
Reference rs80359274(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.32906893delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043772.2, RCV000112902.1, RCV000222925.1,