The UMD-MSH2 mutations database
Mutation c.IVS12-2A>G (c.2006-2A>G)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Acceptor	tttgttttgtagGC	86.1 _	tttgttttgtggGC	57.1 _ *	-33.6 %

     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_DDM1364043317215125418	-	-	-	-	-
33_TNN 053__06-995	-	-	-	-	-
4_JCS1222291754201	-	-	-	-	-
SO_-2229---G01105	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	MSI-H / MSH2-MSH6- (DDM13640-43317)	1/09/15	2 (Villejuif)	---
Clinical phenotype	Index case (DDM13640-43317) : colon cancer at the age of 40. Father : gastric cancer at the age of 54. Paternal uncle : gastric cancer. Paternal aunt : uterine cancer. Two paternal uncles : liver cancers	1/09/15	2 (Villejuif)	---
Clinical phenotype	Amsterdam (JCS1222)	17/03/15	4 (Lyon)	---
In vitro analysis	RT-PCR : loss of exon 13 (JCS1222-29175)	17/03/15	4 (Lyon)	---

Biological significance	Date	Comment
Causal	21/02/14	---