The UMD-MSH2 mutations database
Mutation c.IVS6-11delATTTA (c.1077-11delATTTA)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Acceptor	aatttatttcagAT	85.1 _	atttcagATTTGAA	45.8 _ *	-46.1 %

     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
29311_29311-00129311-001	-	-	-	-	-
31_H1617H1617-1H1617-1A	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Ex vivo analysis	Splicing reporter minigene pCAS: retention in frame of the last 9 nucleotides of intron 6 (wild type transcript absent)	22/05/15	19 (INSERM U1079-Rouen)	---
MMR function in tumor cells	MSI-H / MLH1+MSH2-MSH6-PMS2+ (H1617-1)	9/12/13	31 (Montpellier)	---
Clinical phenotype	Sporadic colorectal cancer < 50 years old (H1617-1)	9/12/13	31 (Montpellier)	---

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