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rs80359291

From SNPedia

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


Make rs80359291(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333073
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359291
ebirs80359291
HLIrs80359291
Exacrs80359291
Varsomers80359291
Maprs80359291
PheGenIrs80359291
hapmaprs80359291
1000 genomesrs80359291
hgdprs80359291
ensemblrs80359291
gopubmedrs80359291
geneviewrs80359291
scholarrs80359291
googlers80359291
pharmgkbrs80359291
gwascentralrs80359291
openSNPrs80359291
23andMers80359291
23andMe allrs80359291
SNP Nexus

SNPshotrs80359291
SNPdbers80359291
MSV3drs80359291
GWAS Ctlgrs80359291
Max Magnitude6
rs80359291, also known as 1823del5, c.1595_1599delAAACT and p.Glu532_Thr533?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359291(;)
Alt rs80359291(;)
Reference rs80359291(AAACT;AAACT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32907210_32907214delAAACT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043836.2, RCV000112938.1,