The UMD-MSH2 mutations database
Mutation c.IVS15+5G>C (c.2634+5G>C)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Donor	GAGgtttgt	84.4 _	GAGgtttct	72.4 _ *	-14.2 %

     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
31_H1006_H1006-1_H1006-1A	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Ex vivo analysis	Splicing reporter minigene pCAS: major loss of exon 15	18/09/12	19 (INSERM U1079-Rouen)	---
Clinical phenotype	Amsterdam	29/06/15	"Davoodi-Semiromi et al., Am J Med Genet. 2000 Nov 6;95(1):49-52 "	11074494
MMR function in tumor cells	MSI (colon cancer at the age of 37)	29/06/15	"Davoodi-Semiromi et al., Am J Med Genet. 2000 Nov 6;95(1):49-52 "	11074494
Clinical phenotype	Amsterdam I + (H1006)	14/01/11	31 (Montpellier)	---
In vitro analysis	RT-PCR (lymphoblastic cells) : loss of exon 15	29/06/15	"Davoodi-Semiromi et al., Am J Med Genet. 2000 Nov 6;95(1):49-52 "	11074494

Biological significance	Date	Comment
Likely Causal	14/01/11	---