The UMD-MLH1 mutations database
Mutation c.IVS5+25A>G (c.453+25A>G)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Cryptic Acceptor?	atgggagagtaaatt	37.9 _	atgggagagtaGatt	66.9 _ *	43.3 %

     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)

Sample ID	MLH1	MSH2	MSH6	MUTYH	APC
2_02-ACT1727_13913_---	c.IVS6+71T>C (c.545+71T>C) c.IVS12-54C>T (c.1410-54C>T)	-	-	-	-
2_02-OCN108733773212340421	-	-	-	-	-
5_20141632013007173AAI922	c.307_380del (p.Ala103SerfsX13) c.IVS3-29C>A (c.307-29C>A)	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Ovarian cancer at the age of 41, paternal aunt : liver cancer, paternel cousins : oesophageal cancer and liver cancer (02-OCN1087)	12/03/15	2 (Villejuif)	---
MMR function in tumor cells	MSI-L / MLH1+MSH2+MSH6? (ovarian cancer, 02-OCN1087-33773)	12/03/15	2 (Villejuif)	---
Clinical phenotype	Amsterdam I + (2014163)	5/08/15	5 (Bordeaux)	---
MMR function in tumor cells	MSI / MLH1-MSH2+MSH6+PMS2- (2014163-2013007173)	5/08/15	5 (Bordeaux)	---
Co-occurrence	MLH1:c.307-29C>A, p.?, MLH1:c.307_380del, p.Ala103SerfsX13 causal (2014163-2013007173)	5/08/15	5 (Bordeaux)	---
Clinical phenotype	Endometrial cancer <50 ans (ACT1727-13913). Father : colorectal cancer.	31/03/12	2 (Villejuif)	---
Co-occurrence	MLH1 : c.22_23delAT; p.Ile8SerfsX22	15/10/08	Quality Control France 2004	---
MMR function in tumor cells	MSI / MLH1+MSH2+MSH6+ (ACT1727-13913)	31/03/12	2 (Villejuif)	---
Co-occurrence	MSH2: c.1643G>A and MSH2: c.1681G>A (ACT1727-13913)	31/03/12	2 (Villejuif)	---

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