rs1142345

This is a missense variant in the TPMT gene.

Key Literature Trait Associations

Thiopurine Toxicity

TPMT*3C carries a Y240C substitution. When present alone (without rs1800460), it defines the *3C allele — the most common non-functional TPMT allele in East Asian and African populations. When combined with rs1800460, it defines *3A. Both result in complete loss of TPMT function and high risk of severe myelosuppression from standard thiopurine doses. CPIC recommends combined genotyping with NUDT15 for comprehensive thiopurine toxicity risk assessment.

Relling MV et al. “Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing.” Clinical Pharmacology and Therapeutics 89(3):387-391 (2011)

Allele C

OR —

p —

Candidate gene study

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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ClinVar annotation

Likely Benign★★★☆

5 submitters12 publications

Thiopurine S-methyltransferase deficiency; not provided

View on ClinVar →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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