The UMD-MSH2 mutations database
Mutation c.IVS15-8T>G (c.2635-8T>G)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Acceptor	catgtgtttcagCA	82.3 _	catgggtttcagCA	80.3 _	-2.3 %

     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
2_02-ACT2422_16438_16438	-	-	-	-	-
31_H199H199-4H199-4A	-	-	-	-	-
31_H199H199-5H199-5A	-	-	-	-	-
8_F165_B031030_G1 - 7	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
MMR function in tumor cells	MMSI / SH2-	29/09/09	8 (Nancy)	---
MMR function in tumor cells	MSH2-MSH6-	19/09/09	2 (Villejuif)	---
MMR function in tumor cells	MSI / MSH2-MSH6- (2 first cousins)	21/09/10	2 (Villejuif)	---
MMR function in tumor cells	MSI	19/09/09	2 (Villejuif)	---
Clinical phenotype	Amsterdam II +	28/03/11	2 (Villejuif) 8 (Nancy)	---
Clinical phenotype	Amsterdam II +	19/09/09	2 (Villejuif)	---
In vitro analysis	RT-PCR : major loss of exon 16 and retention of 3' aberrant exons 3' to the normal stop codon	28/03/11	2 (Villejuif)	---

Biological significance	Date	Comment
Causal	13/12/11	---