The UMD-MSH2 mutations database
Mutation c.IVS13-10T>G (c.2211-10T>G)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Cryptic Acceptor?	tcatgtaattatgtg	47.7 _	tcatgtaattaGgtg	76.7 _ *	37.7 %

     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
19_2667226672.00126672.001	-	c.IVS9+10A>G (c.790+10A>G)	-	-	-
2_02-OCN6733_26940_210284424	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
MMR function in tumor cells	MLH1+MSH2+MSH6+/-PMS2+ (OCN6733-26940)	7/07/14	2 (Villejuif)	---
MMR function in tumor cells	MSI / MSH2-MSH6- (26672.001)	25/09/15	19 (Rouen)	---
In vitro analysis	RT-PCR (LLB 27689.001): abnormal transcript, insertion in frame of the last 9 nucleotides of intron 13 (r.2210_2211insGUGCUUCAG, p.Arg737_Ser738insValLeuGln) (OCN6733-26940)	7/07/14	19 (Rouen)	---
Ex vivo analysis	Splicing reporter minigene pCAS1: retention in frame of the last 9 nucleotides of intron 13 (OCN6733-26940)	7/07/14	19 (INSERM U1079-Rouen)	---
Clinical phenotype	Index case (26672.001) : colon cancer at the age of 53	25/09/15	19 (Rouen)	---
Co-occurrence	MLH1:c.790+10A>G (26672.001)	25/09/15	19 (Rouen)	---

Biological significance	Date	Comment
UV	28/04/14	---