TABLE 4.
Variants not previously reported in PharmVar CYP2D6 database.
| Variant position (CYP2D6 Reference) a | SNP rsID | Type of variant | Number observed in cohort | Allelic designation | Functional prediction |
|---|---|---|---|---|---|
| 4818 (Promoter) | rs372204775 | G>A | 2 b | *4.033 | — |
| 6071 (Exon 2) | rs/na | Missense A>G (Gln > Arg) | 1 | *167.001 | SIFT = 0.02 (deleterious) PolyPhen = 0.476 (possibly damaging) |
| 6528 (Intron 2) | rs369508051 | G>A | 19 b | *41.006 | — |
| 6947 (Exon 4) | rs755518310 | Missense G>A (Glu > Lys) | 1 | *168.001 | SIFT = 0.01 (deleterious) PolyPhen = 0.043 (benign) |
| 7058 (Intron 4) | rs564994275 | A>C | 1 | *4.032 | — |
| 7061 (Intron 4) | rs778008161 | G>C | 1 | *1.050 | — |
| 7238 (Intron 4) | rs/na | G>C | 2 | *1.051 | — |
| 8376 (Intron 7) | rs376909251 | G>A | 1 | *1.052 | — |
| 8406 (Intron 7) | rs/na | Insertion AGCACC | 2 | *1.053 | — |
| 8849 (Exon 8) | rs1602566413 | Missense G>C (Val > Leu) | 2 b | *169.001 | SIFT = 0.03 (deleterious) PolyPhen = 0.67 (possibly damaging) |
| 8887 (Exon 8) | rs1037093492 | Synonymous C>T (Arg > Arg) | 2 b | *2.031 | No predicted effect |
| 9021 (Intron 8) | rs769045995 | A>G | 1 | *41.007 | — |
a
Reference sequence NG_008376.4 (1 = sequence start).
b
Variant also identified by Charnaud et al. (2022).
Italic values are Star allele designations.