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rs80359261

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359261(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332532
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359261
dbSNP (classic)rs80359261
ClinGenrs80359261
ebirs80359261
HLIrs80359261
Exacrs80359261
Gnomadrs80359261
Varsomers80359261
LitVarrs80359261
Maprs80359261
PheGenIrs80359261
Biobankrs80359261
1000 genomesrs80359261
hgdprs80359261
ensemblrs80359261
geneviewrs80359261
scholarrs80359261
googlers80359261
pharmgkbrs80359261
gwascentralrs80359261
openSNPrs80359261
23andMers80359261
SNPshotrs80359261
SNPdbers80359261
MSV3drs80359261
GWAS Ctlgrs80359261
Max Magnitude6

rs80359261, also known as 1282insT, c.1054_1055insT and p.Tyr352?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359261(T;T)
Alt rs80359261(T;T)
Reference Rs80359261(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32906669dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031306.6, RCV000130964.3, RCV000257966.1, RCV000365830.2,