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rs80359551

From SNPedia

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


Make rs80359551(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340308
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359551
dbSNP (classic)rs80359551
ClinGenrs80359551
ebirs80359551
HLIrs80359551
Exacrs80359551
Gnomadrs80359551
Varsomers80359551
LitVarrs80359551
Maprs80359551
PheGenIrs80359551
Biobankrs80359551
1000 genomesrs80359551
hgdprs80359551
ensemblrs80359551
geneviewrs80359551
scholarrs80359551
googlers80359551
pharmgkbrs80359551
gwascentralrs80359551
openSNPrs80359551
23andMers80359551
SNPshotrs80359551
SNPdbers80359551
MSV3drs80359551
GWAS Ctlgrs80359551
Merged fromRs397507815
Max Magnitude6

rs80359551, also known as c.5954_5955delCT, 6181delTC, c.5953_5954delTC and p.Ser1985Cysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359551(-;-) rs80359551(CT;CT)
Alt rs80359551(-;-) rs80359551(CT;CT)
Reference Rs80359551(TC;TC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914446_32914447delCT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044802.2, RCV000113509.2,