rs75017182

This is a intronic variant in the DPYD gene.

Key Literature Trait Associations

Fluoropyrimidine Toxicity

DPYD HapB3 is a deep intronic variant that causes partial reduction in DPD enzyme activity through aberrant mRNA splicing. It is part of the EMA-recommended 4-variant DPYD testing panel (alongside *2A, *13, and D949V) that is now mandatory before fluoropyrimidine chemotherapy in many European countries. CPIC recommends a 50% dose reduction for heterozygous HapB3 carriers.

Amstutz U et al. “Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update.” Clinical Pharmacology and Therapeutics 103(2):210-216 (2018)

Allele C

OR —

p —

Candidate gene study

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ClinVar annotation

Drug Response★★★★

3 submitters15 publications

fluorouracil response - Other; capecitabine response - Toxicity; fluorouracil response - Toxicity; DPYD-related disorder; not provided

View on ClinVar →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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