The UMD-MSH2 mutations database
Mutation
c.IVS1-4del (c.212-4del)
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| tttttttttaagGA |
| tttttttttaagGA |
| 0 % |
 |
Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 7_10623E2K033 | - | - | - | - | - |
| 7_10961762E03516 | - | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_1698268E2K247 | c.IVS10+12G>A (c.1661+12G>A) | c.882C>T (p.Leu294Leu) c.IVS3-29C>A (c.307-29C>A) c.IVS13+14G>A (c.1558+14G>A) c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_1916418E01103 | c.IVS1+9C>G (c.211+9C>G) c.IVS9+29delAAT (c.1510+29delAAT) c.IVS14+36G>A (c.2458+36G>A) | - | - | - | - |
| 7_1978406E01057 | c.2546T>G (p.Leu849Arg) | c.483G>A (p.Thr161Thr) | - | - | - |
| 7_2231569E01257 | c.IVS1+9C>G (c.211+9C>G) c.IVS5+28del2 (c.942+28del2) c.IVS14+36G>A (c.2458+36G>A) | - | c.IVS7+35del4 (c.3646+35del4) c.116G>A (p.Gly39Glu) | - | - |
| 7_2283286E2K269 | - | - | - | - | - |
| 7_2600581E01271 | c.IVS5+28del2 (c.942+28del2) c.IVS10+12G>A (c.1661+12G>A) c.IVS14+36G>A (c.2458+36G>A) | - | c.IVS7+35del4 (c.3646+35del4) | - | - |
| 7_2764626E02022 | c.IVS5+28del2 (c.942+28del2) c.IVS14+36G>A (c.2458+36G>A) | - | c.3549A>G (p.Ile1183Met) c.IVS7+35del4 (c.3646+35del4) | - | - |
| 7_34331769E03518 | - | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_36351755E03511 | - | - | - | - | - |
| 7_3819 (00K98)2003E040255 | c.IVS10+12G>A (c.1661+12G>A) | - | - | - | - |
| 7_38732077E040292 | c.IVS14+10A>C (c.2458+10A>C) | c.655A>G (p.Ile219Val) | - | - | - |
| 7_3973 (F326)2133E040357 | - | - | - | - | - |
| 7_39962547E040715 | - | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_43172549E040705 | 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.IVS13+1G>T (c.1558+1G>T) c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_44222613E040794 | c.IVS1+9C>G (c.211+9C>G) c.IVS10+12G>A (c.1661+12G>A) | c.IVS13+14G>A (c.1558+14G>A) | - | - | - |
| 7_444453E01139 | c.2647dup (p.Ile883AsnfsX16) c.IVS1+9C>G (c.211+9C>G) c.741C>T (p.Gly247Gly) c.IVS5+28del2 (c.942+28del2) c.IVS14+36G>A (c.2458+36G>A) | - | - | - | - |
| 7_4591763E03517 | c.IVS10+12G>A (c.1661+12G>A) | - | - | - | - |
| 7_511761E03515 | - | c.2079dup (p.Glu694GlyfsX10) c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) c.1959G>T (p.Leu653Leu) | - | - | - |
| SO_-38203143 (G08328)G083 | - | - | - | - | - |
| SO_-51883126G07918 | - | - | - | - | - |
| SO_-53243139 (G08303)G083 | c.IVS3-20A>C (c.646-20A>C) | - | - | - | - |
| SO_-53483133 (G08182)G081 | c.35A>G (p.Glu12Gly) c.127T>C (p.Tyr43His) | - | - | - | - |
| SO_-56273213G08794 | 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_-56353220G08755 | c.IVS1+9C>G (c.211+9C>G) c.IVS9-9A>T (c.1511-9A>T) c.IVS10+12G>A (c.1661+12G>A) | - | - | - | - |
| SO_-56423226G08742 | c.IVS10+12G>A (c.1661+12G>A) | - | - | - | - |
| SO_-56693242G08872 | - | - | - | - | - |
| SO_-57033273G08958 | c.IVS1+9C>G (c.211+9C>G) | - | - | - | - |
| SO_-57383087G09004 | c.14C>G (p.Pro5Arg) c.IVS1+9C>G (c.211+9C>G) c.IVS9-9A>T (c.1511-9A>T) c.IVS10+12G>A (c.1661+12G>A) | - | - | - | - |
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| Ex vivo analysis | Splicing reporter minigene pCAS: normal splicing | 28/03/11 | 19 (INSERM U1079-Rouen) |
| Biological significance | Date | Comment |
|---|---|---|
| Neutral | 26/09/11 | --- |