The UMD-MSH2 mutations database
Mutation
c.IVS6-10T>C (c.1077-10T>C)
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| aatttatttcagAT |
| aacttatttcagAT |
| -0.8 % |
 |
Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 19_5729_5729-001_5729-001 | - | - | - | - | - |
| 2_02-ACT3009_14894_14894 | - | - | - | - | - |
| 31_H297_1_A | c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | - | c.116G>A (p.Gly39Glu) | - | - |
| 33_PSL 778__06-1046 | - | - | - | - | - |
| 33_PSL 794__06-1105 | - | - | - | - | - |
| 5_2001168_20001550_AAA955 | c.1046C>T (p.Pro349Leu) | - | - | - | - |
| 5_2003034_19894920_AAA545 | - | c.2041G>A (p.Ala681Thr) | - | - | - |
| 5_2003034_19931991_--- | - | - | - | - | - |
| 5_2004081_---_--- | c.1901T>G (p.Leu634X) c.IVS12-6T>C (c.2006-6T>C) | - | - | - | - |
| 5_2005019_20044776_AAA566 | - | - | - | - | - |
| 5_2005125_20052065_AAA833 | - | - | - | - | - |
| 5_2005199_19894859_AAA841 | - | - | - | - | - |
| 5_2008014_20080037_AAC200 | - | - | - | - | - |
| 5_2008032_P0034591_AAC207 | - | - | - | - | - |
| 7_-57932949E041032 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | - | - | - | - |
| 7_-58032960E041269 | c.IVS1+9C>G (c.211+9C>G) c.IVS9-9A>T (c.1511-9A>T) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_-58783522E050105 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | - | - | - | - |
| 7_-59624002E050594 | c.IVS1+9C>G (c.211+9C>G) c.IVS9-9A>T (c.1511-9A>T) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) c.380A>G (p.Asn127Ser) | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_-62745369E060675 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | - | - | - | - |
| 7_41773083E041200 | c.IVS1+9C>G (c.211+9C>G) c.IVS9-9A>T (c.1511-9A>T) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_43592523E040661 | c.IVS1+9C>G (c.211+9C>G) c.IVS9-9A>T (c.1511-9A>T) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_43643905E050485 | c.IVS1+9C>G (c.211+9C>G) c.IVS9-9A>T (c.1511-9A>T) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | - | - | - | - |
| 7_4414 (04K226)2555E04071 | c.IVS1+9C>G (c.211+9C>G) c.IVS12-6T>C (c.2006-6T>C) | c.IVS14-19A>G (c.1668-19A>G) | - | - | - |
| 7_4535 (04K233)2699E04097 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_4593 (04K237)2776E04114 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) c.1959G>T (p.Leu653Leu) | - | - | - |
| 7_48784306E050942 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | - | - | - | - |
| 7_4969 (CAL 05007)4105E05 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_51014545E051312 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | 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_5166 (F529)4401E051076 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | 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_53614931E060092 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_5390 (547)4962E060105 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_5393 (05K274)4965E06010 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | c.IVS14-19A>G (c.1668-19A>G) | - | - | - |
| 7_5454 (05040)5443E060785 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_5652644E040849 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| SO_-4023---G05889 | - | - | - | - | - |
| SO_-56573233G08815 | c.IVS1+9C>G (c.211+9C>G) c.IVS9-9A>T (c.1511-9A>T) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | - | - | - | - |
| SO_-56853260G08893 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | - | - | - | - |
| SO_3879546751A3 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | - | - | - | - |
| SO_4361746771.00E+04 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) c.IVS12-6T>C (c.2006-6T>C) | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| MMR function in tumor cells | MSS / MLH1+MSH2+ (patient A) | 5/07/02 | SO (Marseille) | |
| MMR function in tumor cells | MSS | 15/02/07 | 31 (Montpellier), 2 (Villejuif) | |
| Ex vivo analysis | Splicing reporter minigene pCAS: normal splicing | 15/02/07 | 19 (INSERM U1079-Rouen) | |
| MMR function in tumor cells | MLH1-MSH2+MSH6+ (patient B) | 7/02/07 | 14 (Nantes) | |
| Co-occurrence | MLH1 : c.2T>A, p.Met1? (patient B) | 7/02/07 | 14 (Nantes) |
| Biological significance | Date | Comment |
|---|---|---|
| Neutral | 6/02/07 | --- |