The UMD-MLH1 mutations database
Mutation c.IVS10-16del2 (c.885-16del2)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Cryptic Acceptor?	ctcttattttcctga	23.1 _	cttattttcctgaca	60.9 _ *	62.1 %

     Data for this mutation

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

Sample ID	MLH1	MSH2	MSH6	MUTYH	APC
7_4999 (05K255) 4160E0508	c.IVS11-8T>A (c.1039-8T>A) c.IVS13+14G>A (c.1558+14G>A)	c.IVS1+9C>G (c.211+9C>G)	-	-	-
8_41454_7091953_08-303290	-	c.2242G>T (p.Asp748Tyr)	-	-	-
SO_-5463---G08440	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Sporadic colorectal cancer < 50 years old	15/10/08	SO (Marseille)	---
MMR function in tumor cells	MLH1-	18/10/04	SO (Marseille)	---
Ex vivo analysis	Splicing reporter minigene pCAS: normal splicing	26/09/11	19 (INSERM U1079-Rouen)	---
Clinical phenotype	Multiple colorectal cancers	13/06/14	8 (Nancy)	---
Co-occurrence	MSH2 : c.2242G>T; p.Asp748Tyr	13/06/14	8 (Nancy)	---
MMR function in tumor cells	MSI-H / MLH1+MSH2+MSH6+	13/06/14	8 (Nancy)	---

Biological significance	Date	Comment
Neutral	26/09/11	---