The UMD-MSH2 mutations database
Mutation c.IVS12+9C>A (c.2005+9C>A)



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
8_426397679708-723311c.IVS12+2del (c.2005+2del)----
8_426397679908-923311c.IVS12+2del (c.2005+2del)----
8_426397680108-133311c.IVS12+2del (c.2005+2del)----
8_42639_80316_08-304121EGc.IVS12+2del (c.2005+2del)----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Ex vivo analysisSplicing reporter minigene pCAS: retention of the first 30 nucleotides of intron 12 in exon 121/08/1419 (INSERM U1079-Rouen)
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Clinical phenotypeColon cancer < 50 years old (2 brothers) (F42639)13/06/148 (Nancy)
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Co-occurrenceMSH2 : c.2005+2del Causal5/06/1437 (Lille)
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Co-occurrenceMSH2 : c.2005+2del Causal (-cis position) (3 patients in the same family F-42639-76801, 76799, 76797)1/08/148 (Nancy)
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MMR function in tumor cellsMSI-H / MLH1+MSH2-MSH6-13/06/148 (Nancy)
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In vitro analysisRT-PCR : retention of 30 nucleotides of intron 12 in exon 1213/06/148 (Nancy)
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Biological significanceDate Comment
Causal9/07/15---