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rs80359391

From SNPedia

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


Make rs80359391(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32337953
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359391
ebirs80359391
HLIrs80359391
Exacrs80359391
Varsomers80359391
Maprs80359391
PheGenIrs80359391
hapmaprs80359391
1000 genomesrs80359391
hgdprs80359391
ensemblrs80359391
gopubmedrs80359391
geneviewrs80359391
scholarrs80359391
googlers80359391
pharmgkbrs80359391
gwascentralrs80359391
openSNPrs80359391
23andMers80359391
23andMe allrs80359391
SNP Nexus

SNPshotrs80359391
SNPdbers80359391
MSV3drs80359391
GWAS Ctlgrs80359391
Max Magnitude6
rs80359391, also known as 3826delTG, c.3598_3599delTG and p.Cys1200Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359391(;)
Alt rs80359391(;)
Reference rs80359391(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,