chr10:129466231:> Detail (hg38) (MGMT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:131,264,495-131,265,656 |
| hg38 | chr10:129,466,231-129,467,392 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| glioblastoma | B |
Prognostic
|
Supports
|
Better Outcome | Somatic | 4 | 11070098 | Detail | |
| glioblastoma | Temozolomide | A |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 5 | 15758010 | Detail |
| glioblastoma | Carmustine | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 11070098 | Detail |
| glioblastoma | O6-Benzylguanine | E |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 11070098 | Detail |
| oligodendroglioma | B |
Prognostic
|
Supports
|
Better Outcome | Somatic | 4 | 19901104 | Detail | |
| glioblastoma | B |
Prognostic
|
Supports
|
Better Outcome | Somatic | 5 | 15758010 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| MGMT promoter methylation was associated with increased overall and disease-free survival as well as... | CIViC Evidence | Detail |
| In a randomized clinical trial, patients with MGMT promoter methyaltion benefitted from temozolomide... | CIViC Evidence | Detail |
| MGMT promoter methylation has been shown to confer sensitivity to alkylating agents, such as carmust... | CIViC Evidence | Detail |
| In patients lacking MGMT promoter methylation, the use of an MGMT inhibitor, such as O(6)-benzylguan... | CIViC Evidence | Detail |
| In a study of 152 anaplastic oligodendroglial tumors, 121 samples had MGMT promoter methylation. Tho... | CIViC Evidence | Detail |
| In patients with glioblastoma, those with methylated MGMT promoters have better overall survival tha... | CIViC Evidence | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr10:129,466,231-129,467,392
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- PROMOTER METHYLATION
- Transcript 1 (CIViC Variant)
- ENST00000306010.7
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/85
- Summary (CIViC Variant)
- MGMT promoter methylation has been observed to impact tumor progression in glioblastoma multiforme. In patients exhibiting promoter methylation, the akylating agent carmustine has shown efficacy. In patients lacking methylation, combining carmustine with the MGMT inhibitor O(6)-benzylguanine may be effective, but more experiments are required. Clinical trials have also shown selective sensitivity of promoter methylation-positive patients to temozolomide, making a case for wider methylation screening in GBM patients.
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