The UMD-MSH2 mutations database
Mutation c.2649_2654del



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
2_02-ACT283639226214118445-----
2_02-ACT283639858214175421-----
2_02-ACT283639859214175423-----
2_02-ACT2836_18901_18901--c.IVS4+39G>A (c.3172+39G>A)--

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Clinical phenotypeIndex case : colorectal cancer at the age of 42 (18901). Brother : colorectal cancer at the age of 56 (19000). (ACT2836)29/10/122 (Villejuif)
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Segregation analysisThree young asymptomatic carriers (36, 34, 23 years old) (ACT2836-39226, 39859, 39858)1/07/142 (Villejuif)
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Segregation analysisLOD score = 0,9 (ACT2836)18/09/122 (Villejuif)
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In vitro analysisRT-PCR : normal splicing28/03/112 (Villejuif)
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MMR function in tumor cellsMSI-H / MLH1+MSH2-MSH6-PMS2+ (ACT2836-19000) and MSI / MSH2-MSH6- (ACT2836-18901) (2 brothers)19/09/092 (Villejuif)
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Biological significanceDate Comment
Causal28/01/13---