MGMT
O-6-methylguanine-DNA methyltransferase
Summary
Alkylating agents are potent carcinogens that can result in cell death, mutation and cancer. The protein encoded by this gene is a DNA repair protein that is involved in cellular defense against mutagenesis and toxicity from alkylating agents. The protein catalyzes transfer of methyl groups from O(6)-alkylguanine and other methylated moieties of the DNA to its own molecule, which repairs the toxic lesions. Methylation of the genes promoter has been associated with several cancer types, including colorectal cancer, lung cancer, lymphoma and glioblastoma. [provided by RefSeq, Sep 2015]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1625649 | 10:131,264,931 | A/C | upstream gene variant | — |
| rs1318669335 | 10:131,265,509 | C/T | — | likely benign |
| rs1440359481 | 10:131,265,513 | G/T | — | uncertain significance |
| rs1279075162 | 10:131,265,519 | C/G | — | uncertain significance |
| rs16906252 | 10:131,265,545 | C/T | synonymous variant | — |
| rs12269324 | 10:131,266,470 | T/A | regulatory region variant | — |
| rs185808758 | 10:131,269,471 | C/T | intron variant | — |
| rs12254582 | 10:131,279,791 | A/G | intron variant | — |
| rs12769288 | 10:131,286,350 | C/T | downstream gene variant | — |
| rs151132897 | 10:131,287,868 | C/T | downstream gene variant | — |
| rs374711078 | 10:131,296,049 | C/T | — | — |
| rs12268840 | 10:131,325,299 | C/T | intron variant | — |
| rs10829603 | 10:131,327,351 | T/A | — | — |
| rs544050191 | 10:131,334,542 | G/T | — | uncertain significance |
| rs748231906 | 10:131,334,543 | C/T | — | uncertain significance |
| rs771392791 | 10:131,334,590 | A/G | — | uncertain significance |
| rs2020893 | 10:131,334,604 | G/A | — | likely benign |
| rs775096561 | 10:131,334,613 | C/T | — | uncertain significance |
| rs556947127 | 10:131,372,968 | T/A | — | — |
| rs186372878 | 10:131,383,856 | C/T | intron variant | — |
| rs539985882 | 10:131,420,475 | C/T | — | — |
| rs139219283 | 10:131,425,671 | C/T | intron variant | — |
| rs477692 | 10:131,426,022 | T/C | intron variant | — |
| rs138193175 | 10:131,454,824 | C/T | intron variant | — |
| rs7087131 | 10:131,474,474 | G/T | — | — |
| rs527496150 | 10:131,486,136 | G/T | — | — |
| rs11016879 | 10:131,489,782 | A/G | intron variant | — |
| rs11016883 | 10:131,500,940 | G/C | upstream gene variant | — |
| rs141160047 | 10:131,506,186 | G/A | — | likely benign |
| rs1803965 | 10:131,506,192 | C/T | synonymous variant | — |
| rs771707610 | 10:131,506,200 | C/T | — | uncertain significance |
| rs143566017 | 10:131,506,256 | G/A | — | uncertain significance |
| rs147505998 | 10:131,506,271 | C/G | — | uncertain significance |
| rs140112379 | 10:131,506,274 | G/A | — | uncertain significance |
| rs761952141 | 10:131,506,278 | C/T | — | uncertain significance |
| rs12917 | 10:131,506,283 | C/T | missense variant | — |
| rs766739852 | 10:131,506,290 | A/G | — | uncertain significance |
| rs144397748 | 10:131,506,294 | C/T | — | likely benign |
| rs7922405 | 10:131,509,681 | G/A | intron variant | — |
| rs77520644 | 10:131,548,119 | G/A | intron variant | — |
| rs41544612 | 10:131,557,295 | G/A | intron variant | — |
| rs2493624247 | 10:131,557,475 | C/G | — | uncertain significance |
| rs768667991 | 10:131,557,478 | G/A | — | uncertain significance |
| rs1472497607 | 10:131,557,568 | C/G | — | uncertain significance |
| rs2296675 | 10:131,564,998 | A/G | upstream gene variant | — |
| rs2493632859 | 10:131,565,058 | A/G | — | uncertain significance |
| rs2308321 | 10:131,565,064 | A/G | missense variant | — |
| rs751313220 | 10:131,565,094 | G/A | — | uncertain significance |
| rs777316575 | 10:131,565,137 | G/C | — | uncertain significance |
| rs2308327 | 10:131,565,170 | A/G | missense variant | benign |
| rs777904492 | 10:131,565,179 | T/C | — | uncertain significance |
| rs200161468 | 10:131,565,180 | G/T | — | uncertain significance |
| rs1288043454 | 10:131,565,205 | G/A | — | likely benign |
| rs11016918 | 10:131,567,067 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.