The UMD-MSH2 mutations database
Mutation c.IVS14-3T>G (c.2459-3T>G)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Cryptic Acceptor?	caaatttcttatagG	44.8 _	caaatttcttaGagG	73.8 _ *	39.2 %

     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
19_13168_13168-001_13168-	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Multiple primary Lynch-related cancers	6/10/09	19 (Rouen)	---
Ex vivo analysis	Splicing reporter minigene pCAS: activation of a cryptic splicing acceptor site within exon 15 leading to the deletion of 36 nucleotides or loss of exon 15	27/03/09	19 (INSERM U1079-Rouen)	---
In vitro analysis	RT-PCR : probable NMD of the mutated allele (not expressed)	6/10/09	19 (Rouen)	---
MMR function in tumor cells	MSI / MLH1+MSH2+	6/10/09	19 (Rouen)	---

Biological significance	Date	Comment
Likely Causal	13/12/11	---