The UMD-MSH2 mutations database
Mutation c.IVS7-8T>C (c.1277-8T>C)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Acceptor	actttcttttagGA	84.4 _	acttccttttagGA	85 _	0.7 %

     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
37_L08.037_5253_---	-	-	-	-	-
7_-62845433E060753	c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A)	c.IVS11-8T>A (c.1039-8T>A) c.IVS13+14G>A (c.1558+14G>A) c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val)	-	-	-
7_1005283E2K266	c.148G>A (p.Ala50Thr) c.IVS10+12G>A (c.1661+12G>A)	c.IVS7+103G>C (c.588+103G>C)	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Sporadic colorectal cancer < 50 years old (family 2)	28/03/11	7 (Marseille)	---
MMR function in tumor cells	MSI (mutation on BRAF, methylation of the MLH1 promoter) (patient A)	29/09/08	37 (Lille)	---
Clinical phenotype	Sporadic colorectal cancer 51 years old	28/03/11	7 (Marseille)	---
In vitro analysis	RT-PCR : normal splicing (patient A)	14/08/08	37 (Lille)	---

Biological significance	Date	Comment
Neutral	13/12/11	---