The UMD-MSH2 mutations database
Mutation c.IVS13-14A>C (c.2211-14A>C)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Acceptor	tatgtgcttcagGT	89.1 _	ctatgtgcttcagGT	21.4 _ *	-76 %

     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)

Sample ID	MSH2	MLH1	MSH6	MUTYH	APC
8_466718967908-367141	c.IVS15-1G>C (c.2635-1G>C)	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Index case (46671-89679) : colon cancer at the age of 51 + bladder cancer at the age of 52 + kidney cancer at the age of 53. Mother : generalized cancer. No other familial data	25/09/15	8 (Nancy)	---
MMR function in tumor cells	MSI-H / MLH1+MSH2-MSH6-PMS2+ (46671-89679, colon)	25/09/15	8 (Nancy)	---
Co-occurrence	MSH2:c.2635-1G>C, p.? causal (46671-89679)	25/09/15	8 (Nancy)	---

Biological significance	Date	Comment
UV	25/09/15	---