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rs80359526

From SNPedia

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


Make rs80359526(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339976
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359526
dbSNP (classic)rs80359526
ClinGenrs80359526
ebirs80359526
HLIrs80359526
Exacrs80359526
Gnomadrs80359526
Varsomers80359526
LitVarrs80359526
Maprs80359526
PheGenIrs80359526
Biobankrs80359526
1000 genomesrs80359526
hgdprs80359526
ensemblrs80359526
geneviewrs80359526
scholarrs80359526
googlers80359526
pharmgkbrs80359526
gwascentralrs80359526
openSNPrs80359526
23andMers80359526
SNPshotrs80359526
SNPdbers80359526
MSV3drs80359526
GWAS Ctlgrs80359526
Max Magnitude6

rs80359526, also known as 5849del4, c.5621_5624delTTAA and p.Ile1874_Lys1875?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359526(-;-)
Alt rs80359526(-;-)
Reference Rs80359526(TAAT;TAAT)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32914113_32914116delTTAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031561.7, RCV000131115.3, RCV000223208.2, RCV000416547.2,