The UMD-MSH2 mutations database
Mutation c.IVS2+1G>A (c.366+1G>A)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Donor	AAGgtaatt	86.7 _	AAGataatt	59.9 _ *	-30.9 %

     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
8_439117672108-392311EGS	-	c.579A>G (p.Ser193Ser) c.579A>G (p.Ser193Ser)	-	-	-
8_439119288908-285041	-	-	-	-	-
8_439119619508-161241	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Index case : endometrial cancer at the age of 57 (76121). Sister : endometrial cancer at the age of 56. Father : colon cancer. (43911)	27/04/12	8 (Nancy)	---
Co-occurrence	MLH1 : c.579A>G p.Ser193Ser (43911-76721)	27/04/12	8 (Nancy)	---

Biological significance	Date	Comment
Causal	16/12/14	---