Table 3.
Final consensus CYP2D6 genotype to phenotype translation compared to previously reported CPIC and DPWG methods
| Inferred CYP2D6 phenotype | Previous CPIC definition (AS) | Previous DPWG definition (AS) | Consensus definition (AS) | Consensus contiguous definition (AS) | Examples of CYP2D6 diplotypes for consensus translation method |
|---|---|---|---|---|---|
| UM | > 2 | > 2.5 | > 2.25 | > 2.25 | *1/*1xN, *1/*2xN b , *2 a /*2xN b , *1x2/*9 |
| NM | 1–2 | 1.5–2.5 | 1.25 | 1.25 ≤ x ≤ 2.25 | *1/*10 |
| 1.5 | *1/*41, *1/*9 | ||||
| 2.0 | *1/*1, *1/*2 | ||||
| 2.25 | *2x2/*10 | ||||
| IM | 0.5 | 0.5–1 | 0.25 | 0 < x < 1.25 | *4/*10 |
| 0.5 | *4/*41, *10/*10 | ||||
| 0.75 | *10/*41 | ||||
| 1 | *41/*41, *1/*5 | ||||
| PM | 0 | 0 | 0 | 0 | *3/*4, *4/*4, *5/*5, *5/*6 |
AS, activity score; CPIC, Clinical Pharmacogenetics Implementation Consortium; DPWG, Dutch Pharmacogenomics Working Group; IM, intermediate metabolizer; NM, normal metabolizer; PM, poor metabolizer; UM, ultrarapid metabolizer.
a CYP2D6*2 is currently considered to be a normal function allele by CPIC and DPWG; however, this function assignment has been challenged32 and some laboratories report CYP2D6*2 function differently. Function of this allele will be reassessed as additional data become available. bN is categorical and indicates the number of copy variants (e.g., *1x2, *1x3, etc).