Annotation Detail

Information
Associated Genes
MGMT
Associated Variants
MGMT c.-28C>T ( ENST00000651593.1, ENST00000306010.8 )
MGMT c.-28C>T ( ENST00000306010.8, ENST00000651593.1 )
Associated Disease
glioblastoma
Source Database
CIViC Evidence
Description
The T allele of the rs16906252 SNP was associated with MGMT methylation and low protein expression. Germline presence of the T allele increased the risk of glioblastoma development (adjusted odds ratio, 1.96; P = .013). Temozolomide treatment led to better survival in patients with the rs16906252 T genotype irrespective of methylation status.
Variant Origin
Common Germline
Variant Origin
Common Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/822
Gene URL
https://civic.genome.wustl.edu/links/genes/34
Variant URL
https://civic.genome.wustl.edu/links/variants/338
Rating
3
Evidence Type
Predictive
Disease
Glioblastoma Multiforme
Evidence Direction
Supports
Drug
Temozolomide
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
25910840
Drugs
Drug NameSensitivitySupported
TemozolomideSensitivitytrue