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rs80359311

From SNPedia

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


Make rs80359311(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333309
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359311
ebirs80359311
HLIrs80359311
Exacrs80359311
Varsomers80359311
Maprs80359311
PheGenIrs80359311
hapmaprs80359311
1000 genomesrs80359311
hgdprs80359311
ensemblrs80359311
gopubmedrs80359311
geneviewrs80359311
scholarrs80359311
googlers80359311
pharmgkbrs80359311
gwascentralrs80359311
openSNPrs80359311
23andMers80359311
23andMe allrs80359311
SNP Nexus

SNPshotrs80359311
SNPdbers80359311
MSV3drs80359311
GWAS Ctlgrs80359311
Max Magnitude6
rs80359311, also known as 2059delT, c.1831_1831delT and p.Ser611Glnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359311(;)
Alt rs80359311(;)
Reference rs80359311(T;T)
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.32907446delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043905.2, RCV000112984.1, RCV000218544.1,