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rs80359392

From SNPedia

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


Make rs80359392(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337954
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359392
ebirs80359392
HLIrs80359392
Exacrs80359392
Varsomers80359392
Maprs80359392
PheGenIrs80359392
hapmaprs80359392
1000 genomesrs80359392
hgdprs80359392
ensemblrs80359392
gopubmedrs80359392
geneviewrs80359392
scholarrs80359392
googlers80359392
pharmgkbrs80359392
gwascentralrs80359392
openSNPrs80359392
23andMers80359392
23andMe allrs80359392
SNP Nexus

SNPshotrs80359392
SNPdbers80359392
MSV3drs80359392
GWAS Ctlgrs80359392
Max Magnitude6
rs80359392, also known as 3827delGT, c.3599_3600delGT and p.Cys1200Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359392(;)
Alt rs80359392(;)
Reference rs80359392(TG;TG)
Significance Pathogenic
Disease not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN not provided Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32912091_32912092delGT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044230.5, RCV000113196.2, RCV000162919.1, RCV000195400.1,