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rs80359537

From SNPedia

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


Make rs80359537(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340151
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359537
dbSNP (classic)rs80359537
ClinGenrs80359537
ebirs80359537
HLIrs80359537
Exacrs80359537
Gnomadrs80359537
Varsomers80359537
LitVarrs80359537
Maprs80359537
PheGenIrs80359537
Biobankrs80359537
1000 genomesrs80359537
hgdprs80359537
ensemblrs80359537
geneviewrs80359537
scholarrs80359537
googlers80359537
pharmgkbrs80359537
gwascentralrs80359537
openSNPrs80359537
23andMers80359537
SNPshotrs80359537
SNPdbers80359537
MSV3drs80359537
GWAS Ctlgrs80359537
Max Magnitude6

rs80359537, also known as 6024delTA, c.5796_5797delTA and p.His1932_Asn1933GlnProfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359537(-;-) Rs80359537(AT;AT)
Alt rs80359537(-;-) Rs80359537(AT;AT)
Reference Rs80359537(TA;TA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32914288_32914289delTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113484.5, RCV000131106.3, RCV000257917.3,