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rs116855232

NM_018283.4(NUDT15):c.415C>T (p.Arg139Cys)

NUDT15missense variantp.Arg139Cyssingle nucleotide variant
ClinVar by condition
  • azathioprine response - ToxicityDrug response · ★★★ · germline
  • mercaptopurine response - DosageDrug response · ★★★ · germline
  • Thiopurines, poor metabolism of, 2 (THPM2)Drug response · germline
  • NUDT15-related disorderLikely benign · germline

gnomAD allele frequency 1.10e-2

rs116855232 is a genetic variant located in the NUDT15 gene. dbsnp · gene

In gnomAD, rs116855232 has an overall allele frequency of 1.1%. gnomad · frequency

In ClinVar, rs116855232 is classified as Drug response (toxicity) for azathioprine response (3 review stars, germline; last evaluated 2021-03-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs116855232 is classified as Drug response (dosage) for mercaptopurine response (3 review stars, germline; last evaluated 2021-03-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs116855232 is classified as Drug response for Thiopurines, poor metabolism of, 2 (THPM2) (0 review stars, germline; last evaluated 2016-10-25). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs116855232 is classified as Likely benign for NUDT15-related disorder (0 review stars, germline; last evaluated 2021-07-22). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

Sources

retrieved 2026-08-03 · facts 57335b4bb8dd8c85 · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0

Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.