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rs267607944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 6 Likely miscall in Ancestry data; otherwise, Lynch syndrome, pathogenic mutation
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation


Make rs267607944(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position47429741
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607944
dbSNP (old)rs267607944
ClinGenrs267607944
ebirs267607944
HLIrs267607944
Exacrs267607944
Gnomadrs267607944
Varsomers267607944
Maprs267607944
PheGenIrs267607944
Biobankrs267607944
1000 genomesrs267607944
hgdprs267607944
ensemblrs267607944
gopubmedrs267607944
geneviewrs267607944
scholarrs267607944
googlers267607944
pharmgkbrs267607944
gwascentralrs267607944
openSNPrs267607944
23andMers267607944
23andMe allrs267607944
SNPshotrs267607944
SNPdbers267607944
MSV3drs267607944
GWAS Ctlgrs267607944
Max Magnitude6

aka c.1077-1G>C (or, c.1077-1G>T)

Two ClinVar submitters assess c.1077-1G>C as pathogenic or likely to be pathogenic for Lynch Syndrome; the c.1077-1G>T mutation is assessed by one submitter as likely to be pathogenic.


ClinVar
Risk rs267607944(C;C) rs267607944(T;T)
Alt rs267607944(C;C) rs267607944(T;T)
Reference Rs267607944(G;G)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47656880G>C; NC_000002.11:g.47656880G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076019.2, RCV000491682.1, RCV000076020.2,