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rs80359283

From SNPedia

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


Make rs80359283(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332867
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359283
ebirs80359283
HLIrs80359283
Exacrs80359283
Varsomers80359283
Maprs80359283
PheGenIrs80359283
hapmaprs80359283
1000 genomesrs80359283
hgdprs80359283
ensemblrs80359283
gopubmedrs80359283
geneviewrs80359283
scholarrs80359283
googlers80359283
pharmgkbrs80359283
gwascentralrs80359283
openSNPrs80359283
23andMers80359283
23andMe allrs80359283
SNP Nexus

SNPshotrs80359283
SNPdbers80359283
MSV3drs80359283
GWAS Ctlgrs80359283
Max Magnitude6
rs80359283, also known as 1617delAG, c.1389_1390delAG and p.Thr463_Val464ThrGlyfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359283(;)
Alt rs80359283(;)
Reference rs80359283(AG;AG)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32907004_32907005delAG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043794.4, RCV000077255.5, RCV000160277.1, RCV000214525.1,