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rs80359459

From SNPedia

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


Make rs80359459(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32326137
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359459
ebirs80359459
HLIrs80359459
Exacrs80359459
Varsomers80359459
Maprs80359459
PheGenIrs80359459
hapmaprs80359459
1000 genomesrs80359459
hgdprs80359459
ensemblrs80359459
gopubmedrs80359459
geneviewrs80359459
scholarrs80359459
googlers80359459
pharmgkbrs80359459
gwascentralrs80359459
openSNPrs80359459
23andMers80359459
23andMe allrs80359459
SNP Nexus

SNPshotrs80359459
SNPdbers80359459
MSV3drs80359459
GWAS Ctlgrs80359459
Max Magnitude6
rs80359459, also known as 690delAA, c.462_463delAA and p.Gln154_Arg155=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359459(;)
Alt rs80359459(;)
Reference rs80359459(AA;AA)
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.32900274_32900275delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044454.2, RCV000077331.3, RCV000219738.1,