The UMD-MSH2 mutations database
Mutation c.IVS11-62G>A (c.1760-62G>A)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Cryptic Acceptor?	gtatttttacggctt	58.3 _	gtatttttacAgctt	87.2 _ *	33.2 %

     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_---_---_---	c.IVS1+98T>C (c.211+98T>C) c.IVS1+9C>G (c.211+9C>G) c.IVS6-80G>A (c.1077-80G>A) c.IVS6-80G>A (c.1077-80G>A) c.IVS9+111T>C (c.1510+111T>C) c.IVS9+111T>C (c.1510+111T>C) c.IVS9+115A>G (c.1510+115A>G) c.IVS9+115A>G (c.1510+115A>G) c.IVS9+118T>C (c.1510+118T>C) c.IVS9+118T>C (c.1510+118T>C) c.IVS9-91G>T (c.1511-91G>T) c.IVS9-91G>T (c.1511-91G>T) c.IVS9-9A>T (c.1511-9A>T) c.IVS10+12G>A (c.1661+12G>A) c.IVS10+12G>A (c.1661+12G>A) c.IVS11+107A>G (c.1759+107A>G) c.IVS11+107A>G (c.1759+107A>G) c.IVS11+183G>A (c.1759+183G>A) c.IVS11+183G>A (c.1759+183G>A)	c.IVS3-29C>A (c.307-29C>A) c.IVS5+79A>G (c.453+79A>G) c.IVS5-51T>C (c.454-51T>C) c.655A>G (p.Ile219Val)	c.IVS4-101G>C (c.3173-101G>C) c.IVS7+91T>C (c.3646+91T>C) c.IVS8+54C>G (c.3801+54C>G)	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Ex vivo analysis	Splicing reporter minigene pCAS: normal splicing	6/02/07	19 (INSERM U1079-Rouen)	---
Allele frequency	rs17218439 : 1.1% heterozygotes, 0% homozygotes AA (PDR90 population)	28/02/12	dbSNP	rs17218439

Biological significance	Date	Comment
Neutral	12/06/07	---