The UMD-MSH2 mutations database
Mutation c.IVS13-6C>A (c.2211-6C>A)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Cryptic Donor?	tatgtgctt	64.9 _	tatgtgatt	73.7 _ *	11.9 %

     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
2_02-DDM2166_15274_15274	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Ex vivo analysis	Splicing reporter minigene pCAS: activation of a cryptic splicing acceptor site within exon 14 leading to the deletion of 169 nucleotides and inducing a frame-shift or loss of exon 14	19/03/09	19 (INSERM U1079-Rouen)	---
Clinical phenotype	Multiple Lynch related cancers (2 relatives: stomach < 50 years old, colon > 50 years old)	3/07/14	2 (Villejuif)	---
MMR function in tumor cells	MLH1+MSH2+MSH6+PMS2+	3/07/14	2 (Villejuif)	---
In vitro analysis	RT-PCR: normal transcript (NMD?)	3/07/14	2 (Villejuif)	---

Biological significance	Date	Comment
UV	9/07/15	---