Table 2.
Characteristics of the recommended DPYD variants
| Allele | Level of evidence assigned to allele* | Activity score | Level of evidence for dose titration# | Frequency in Europeans |
|---|---|---|---|---|
| No function | ||||
|
DPYD*2A (rs3918290, c.1905 + 1G>A, IVS14 + 1G>A) |
High | 0 | 1A | 1.0–1.2% |
|
DPYD*13 (rs55886062, c.1679T>G, I560S) |
Moderate | 0 | 1A | 0.1% |
| Decreased function | ||||
|
DPYD c.2846A>T (rs67376798, D949V) |
High | 0,5 | 1A | 0.8–1.4% |
|
DPYD c.1236G>A/HapB3 (rs56038477, E412E, in haplotype B3) |
High | 0,5 | 1A | 4.1–4.8% |
*Based on Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines
#Based on clinical annotation levels of evidence of PharmGKB