The UMD-MSH2 mutations database
Mutation c.IVS8-8G>T (c.1387-8G>T)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Acceptor	ttctgtttgcagGT	95.1 _	ttctttttgcagGT	97 _	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_02-DDM3553_20796_20796	c.1737A>G (p.Lys579Lys)	-	-	-	-
33_PSL 453__06-212	c.1737A>G (p.Lys579Lys)	c.IVS11-8T>A (c.1039-8T>A) c.IVS13+14G>A (c.1558+14G>A)	-	-	-
37_L06.53-E_4555_119660/1	c.1737A>G (p.Lys579Lys)	-	-	-	-
37_L13.004-E20746138245/138363	-	-	-	-	-
8_33701_B050813_05-0621	-	-	-	-	-
8_F1446_B053111_05-1946	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
MMR function in tumor cells	MSS / MLH1+MSH2+ (2 independent patients)	12/06/07	8 (Nancy)	---
Co-occurrence	MSH6 : c.3261dupC, p.Phe1088LeufsX5	12/06/07	33 (Paris-Pitie)	---
Ex vivo analysis	Splicing reporter minigene pCAS: normal splicing	7/06/07	19 (INSERM U1079-Rouen)	---
Allele frequency	Linkage disequilibrium with MSH2 : c.1737A>G, p.=	12/06/07	33 (Paris-Pitie)	---

Biological significance	Date	Comment
Neutral	18/09/09	---