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rs80359636

From SNPedia

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


Make rs80359636(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32354922
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359636
ebirs80359636
HLIrs80359636
Exacrs80359636
Varsomers80359636
Maprs80359636
PheGenIrs80359636
hapmaprs80359636
1000 genomesrs80359636
hgdprs80359636
ensemblrs80359636
gopubmedrs80359636
geneviewrs80359636
scholarrs80359636
googlers80359636
pharmgkbrs80359636
gwascentralrs80359636
openSNPrs80359636
23andMers80359636
23andMe allrs80359636
SNP Nexus

SNPshotrs80359636
SNPdbers80359636
MSV3drs80359636
GWAS Ctlgrs80359636
Max Magnitude6
rs80359636, also known as 7297delCT, c.7069_7070delCT and p.Leu2357Valfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359636(;)
Alt rs80359636(;)
Reference rs80359636(TC;TC)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32929059_32929060delCT
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031664.7, RCV000045136.6, RCV000131032.3, RCV000195404.3,