The UMD-MSH6 mutations database
Mutation c.IVS5-16C>T (c.3439-16C>T)

     Data for this mutation

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

Sample ID	MSH6	MLH1	MSH2	MUTYH	APC
17_8050818157001---	-	-	-	-	-
19_15671_15671-001_15671-	-	-	-	-	-
19_2553125531.00125531.001	-	-	c.1759G>C (p.Gly587Arg)	-	-
19_L11.00713708107370	-	-	-	-	-
37_L07.05-E_5419_53109	-	-	-	-	-
37_L13.06521185140235/140236	-	-	-	-	-
7_---891C010073	c.IVS2-52G>T (c.458-52G>T) c.3472T>G (p.Cys1158Gly) c.IVS7+35del4 (c.3646+35del4) c.IVS8+54C>G (c.3801+54C>G) c.116G>A (p.Gly39Glu)	-	-	-	-
7_---894C010076	c.415A>C (p.Thr139Pro) c.423C>G (p.Gly141Gly) c.IVS7+35del4 (c.3646+35del4) c.IVS8+54C>G (c.3801+54C>G) c.186C>A (p.Arg62Arg) c.276A>G (p.Pro92Pro) c.540T>C (p.Asp180Asp)	-	-	-	-
8_425937078408-311011EGS	-	-	-	-	-
SO_-4850---G07287	-	-	-	-	-
SO_-54294590G08372	c.IVS5+14A>T (c.3438+14A>T) c.87C>A (p.Arg29Arg) c.276A>G (p.Pro92Pro) c.540T>C (p.Asp180Asp)	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Co-occurrence	MSH6:c.377C>A, p.Ser126X	24/05/11	19 (Rouen)	---
MMR function in tumor cells	MSI / MLH1+MSH2+MSH6- (25531.001)	13/05/14	19 (Rouen)	---
MMR function in tumor cells	MSH6-	23/03/09	19 (Rouen)	---
Co-occurrence	MSH2 : c.1759G>C; p.Gly587Arg (25531.001)	13/05/14	19 (Rouen)	---
Clinical phenotype	Sporadic colorectal cancer < 50 years old (25531.001)	13/05/14	19 (Rouen)	---
MMR function in tumor cells	MSS / MLH1+MSH2+MSH6+ (patient A)	23/03/09	37 (Lille)	---
Ex vivo analysis	Splicing reporter minigene pCAS: normal splicing	8/09/09	19 (INSERM U1079-Rouen)	---
Clinical phenotype	Asymptomatic adult. Father : colorectal cancer < 50 years old (42593)	27/04/12	8 (Nancy)	---

Biological significance	Date	Comment
Neutral	28/03/11	---