Table 4.

Activity Status of Selected DPYD Alleles

Allele typeAlleles
Strong evidence to support functionModerate evidence to support function
Normal functionNo variant detected (*1), c.1627G>A (*5, rs1801159), c.85T>C (*9A, rs1801265)c.1601G>A (*4, rs1801158), c.2194G>A (*6, rs1801160), c.1003G>T (*11, rs72549306), c.2657G>A (*9B, rs1801267), 496A>G (rs2297595)
Decreased functionc.2846A>T (rs67376798), 1129-5923C>G and 1236G>A (HapB3)c.557A>G (rs115232898)
No functionc.1905+1G>A (*2A, rs3918290)c.1898delC (*3, rs72549303), c.295_298delTCAT (*7, rs72549309), c.703C>T (*8, rs1801266), c.2983G>T (*10, rs1801268), c.1156G>T (*12), c.1679T>G (*13, rs55886062)

This table is adapted from the “DPYD Allele Functionality Table”, available from CPIC. Additional variant information from the PharmVar database. The cDNA coordinates for variation are given for NM_000110.3, DPYD transcript variant 1.

For the nomenclature of human DPYD alleles, please see (25).

CPIC, Clinical Pharmacogenetics Implementation Consortium

From: Fluorouracil Therapy and DPYD Genotype

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Pratt VM, Scott SA, Pirmohamed M, et al., editors.
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