The UMD-MSH2 mutations database
Mutation c.IVS15+5G>T (c.2634+5G>T)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Donor
GAGgtttgt
84.4 _
GAGgttttt
72.1 _ *
-14.6 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
19_13815_13815-001_13815------
19_13815_13815-002_13815------
19_13815_13815-003_13815------
19_13815_13815-004_13815------
19_2428724287.00124287.001-----
SO_-5446---G08403-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Ex vivo analysisSplicing reporter minigene pCAS: major loss of exon 156/02/0719 (INSERM U1079-Rouen)
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MMR function in tumor cellsMSH2- (patient A)23/09/04SO (Marseille)
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Biological significanceDate Comment
Likely Causal28/01/13---