Have questions? Visit https://www.reddit.com/r/SNPedia

rs267607924

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Lynch syndrome
(G;G) 0 common in clinvar
(G;T) 6 Likely miscall in 23andMe data; otherwise, Lynch syndrome, pathogenic mutation
Make rs267607924(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47408556
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607924
dbSNP (classic)rs267607924
ClinGenrs267607924
ebirs267607924
HLIrs267607924
Exacrs267607924
Gnomadrs267607924
Varsomers267607924
LitVarrs267607924
Maprs267607924
PheGenIrs267607924
Biobankrs267607924
1000 genomesrs267607924
hgdprs267607924
ensemblrs267607924
geneviewrs267607924
scholarrs267607924
googlers267607924
pharmgkbrs267607924
gwascentralrs267607924
openSNPrs267607924
23andMers267607924
SNPshotrs267607924
SNPdbers267607924
MSV3drs267607924
GWAS Ctlgrs267607924
Max Magnitude6

rs267607924, also known as c.366+1G>T and c.366+1G>A, is a variant in the MSH2 gene on chromosome 2.

In ClinVar, the rs267607924(T) variant is rated pathogenic for Lynch syndrome by an expert panel, and the rs267607924(A) variant is considered pathogenic (or likely to be pathogenic) as well.


ClinVar
Risk rs267607924(A;A) rs267607924(T;T)
Alt rs267607924(A;A) rs267607924(T;T)
Reference Rs267607924(G;G)
Significance Pathogenic
Disease not provided Lynch syndrome
Variation info
Gene MSH2
CLNDBN not provided Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47635695G>A; NC_000002.11:g.47635695G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000236788.1, RCV000471120.1, RCV000076573.2,