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rs80359645

From SNPedia

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


Make rs80359645(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32330966
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359645
dbSNP (classic)rs80359645
ClinGenrs80359645
ebirs80359645
HLIrs80359645
Exacrs80359645
Gnomadrs80359645
Varsomers80359645
LitVarrs80359645
Maprs80359645
PheGenIrs80359645
Biobankrs80359645
1000 genomesrs80359645
hgdprs80359645
ensemblrs80359645
geneviewrs80359645
scholarrs80359645
googlers80359645
pharmgkbrs80359645
gwascentralrs80359645
openSNPrs80359645
23andMers80359645
SNPshotrs80359645
SNPdbers80359645
MSV3drs80359645
GWAS Ctlgrs80359645
Max Magnitude6

rs80359645, also known as 957del4, c.729_732delTGAT and p.Asn243_Asp244?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359645(-;-)
Alt rs80359645(-;-)
Reference Rs80359645(TGAT;TGAT)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32905103_32905106delTGAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045180.4, RCV000077400.5, RCV000162898.1, RCV000482942.1,