The UMD-MSH2 mutations database
Mutation c.IVS12+2del (c.2005+2del)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Donor	CTGgtaaaa	80.7 _	CTGgtaaaa	80.7 _	0 %

     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_1217212172-00112172-001	-	-	-	-	-
19_2036020360-00120360-001	-	-	-	-	-
19_2036020360-00220360-002	-	-	-	-	-
19_41874187-0014187-001	-	-	-	-	-
19_41874187-0024187-002	-	-	-	-	-
19_4187_4187-001_4187-001	-	-	-	-	-
19_4187_4187-002_4187-002	-	-	-	-	-
7_-36064080E050752	-	-	-	-	-
8_426397679708-723311	c.IVS12+9C>A (c.2005+9C>A)	-	-	-	-
8_426397679908-923311	c.IVS12+9C>A (c.2005+9C>A)	-	-	-	-
8_426397680108-133311	c.IVS12+9C>A (c.2005+9C>A)	-	-	-	-
8_42639_24111969_08-10220	-	-	-	-	-
8_42639_80316_08-304121EG	c.IVS12+9C>A (c.2005+9C>A)	-	-	-	-
SO_-2967---G02964	-	-	-	-	-
SO_-2967---G03614	-	-	-	-	-
SO_-3606---G04797	-	-	-	-	-
SO_-3606---G07041	-	-	-	-	-
SO_-3606---G08212	-	-	-	-	-
SO_-3606---G08213	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
In vitro analysis	RT-PCR PAXgene (12172.001): retention in frame of the first 30 nucleotides of intron 12	19/08/14	19 (Rouen)	---
Ex vivo analysis	Splicing reporter minigene pCAS1: retention in frame of the first 30 nucleotides of intron 12	19/08/14	19 (INSERM U1079-Rouen)	---

Biological significance	Date	Comment
Causal	21/02/14	---