rs2308327

This is a variant in the MGMT gene that changes a lysine to an arginine.

ClinVar annotation

Benign★★★
2 submitters1 publication
View on ClinVar →

Research that mentions this SNP (2)

Polymorphisms in DNA repair pathway genes, body mass index, and risk of non‐Hodgkin lymphoma
AssociationN=868Yingtai Chen et al.(2013)· American Journal of Hematology

Population-based case-control study of 601 Connecticut women with non-Hodgkin lymphoma (NHL) and frequency-matched controls examining interactions between DNA repair gene polymorphisms and body mass index. Suggestive gene-BMI interactions were observed for BRCA1 rs799917 (OR=1.7), XRCC1 rs1799782 (OR=1.5), ERCC2 rs13181 (OR=2.0), and other DNA repair genes in modifying NHL risk. After multiple testing correction, significant interactions remained for WRN rs1801195 with T-cell lymphoma (P=0.004) and ERCC2 rs13181 with diffuse large B-cell lymphoma (P=0.002).

Traits studied:B-cell lymphomaDiffuse large B-cell lymphomaFollicular lymphomaMarginal zone B-cell lymphomaNon-Hodgkin lymphomaSmall lymphocytic lymphoma/chronic lymphocytic leukemiaT-cell lymphoma
Genetic variants inMGMTand risk of lung cancer in Southeastern Chinese: a haplotype-based analysis
AssociationN=1,017Zhibin Hu et al.(2007)· Human Mutation

This haplotype-based association study of 500 lung cancer cases and 517 controls examined genetic variation in the MGMT gene (a DNA repair protein) in southeastern Chinese population. Using multifactor dimensionality reduction (MDR) analysis, researchers identified significant gene-environment interactions between MGMT haplotypes (particularly block 5 diplotypes and preblock SNP rs1625649:C>A) and smoking status. Subjects carrying the combined risk genetic and smoking stratum had a 4.10-fold increased lung cancer risk (OR=4.10, 95% CI=3.12-5.37, P=2.09×10^-24), suggesting MGMT variants modulate smoking-related lung cancer susceptibility.

Traits studied:Lung cancer

About MGMT

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]

View all MGMT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…