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rs67376798

NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)

DPYDmissense variantp.Asp949Valsingle nucleotide variant
ClinVar by condition
  • fluorouracil response - ToxicityDrug response · ★★★ · germline
  • fluorouracil response - OtherDrug response · ★★★ · germline
  • capecitabine response - ToxicityDrug response · ★★★ · germline
  • tegafur response - ToxicityDrug response · ★★★ · germline
  • Dihydropyrimidine dehydrogenase deficiency (DPYDD)Likely pathogenic · ★★ · unknown
  • DPYD-related disorderPathogenic · ★ · paternal
  • Inborn genetic diseasesUncertain significance · ★ · germline
  • Fluorouracil responseother · germline
  • not providedConflicting interpretations · ★ · unknown

gnomAD allele frequency 3.25e-3

rs67376798 is a genetic variant located in the DPYD gene. dbsnp · gene

In gnomAD, rs67376798 has an overall allele frequency of 0.32%. gnomad · frequency

In ClinVar, rs67376798 is classified as Drug response (toxicity) for fluorouracil response (3 review stars, germline; last evaluated 2021-05-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs67376798 is classified as Drug response for fluorouracil response - Other (3 review stars, germline; last evaluated 2021-05-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs67376798 is classified as Drug response (toxicity) for capecitabine response (3 review stars, germline; last evaluated 2021-05-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs67376798 is classified as Drug response (toxicity) for tegafur response (3 review stars, germline; last evaluated 2021-05-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs67376798 is classified as Likely pathogenic for Dihydropyrimidine dehydrogenase deficiency (DPYDD) (2 review stars; last evaluated 2024-07-11). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs67376798 is classified as Pathogenic for DPYD-related disorder (1 review star, paternal; last evaluated 2024-01-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs67376798 is classified as Uncertain significance for Inborn genetic diseases (1 review star, germline; last evaluated 2016-11-08). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs67376798 is classified as other for Fluorouracil response (0 review stars, germline; last evaluated 2016-02-29). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs67376798 is classified as Conflicting interpretations for not provided (1 review star; last evaluated 2024-08-01). clinvar · classificationclinvar · review confidenceclinvar · assertion date

Sources

retrieved 2026-08-03 · facts 088d8ba9dd0ae706 · 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.