The UMD-MSH2 mutations database
Mutation c.IVS3-2A>G (c.646-2A>G)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Acceptor	ctttcaaaatagAT	77.8 _	ctttcaaaatggAT	48.9 _ *	-37.2 %

     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
20_20-48314831-01---	-	-	-	-	-
7_-2394---E050750	-	-	-	-	-
7_-23944078E050750	-	-	-	-	-
SO_-2394---G01694	-	-	-	-	-
SO_-2394---G02726	-	-	-	-	-
SO_-2394---G03210	-	-	-	-	-
SO_-2394---G03222	-	-	-	-	-
SO_-2394---G03293	-	-	-	-	-
SO_-2394---G03701	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Amsterdam II+. Index case (20-4831-01) : endometrium cancer at the age of 40. Maternal uncle : colorectal cancer. Maternal aunt : endometrium cancer	27/08/15	20 (Clermont-Ferrand)	---

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