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. 2022 Oct 21;113(3):643–659. doi: 10.1002/cpt.2749

Figure 5.

Figure 5

Novel CYP2D6 star alleles in SSA characterized via XL‐PCR and HiFi sequencing. Panel (a) shows the two haplotypes in a South African south eastern Bantu‐speaking participant with the novel CYP2D6*70+rs16947 (R296C) haplotype. The submission of this allele for consideration by PharmVar is ongoing. The variant phasing and frequency information from our analysis suggests that CYP2D6*70, which has a “moderate” PharmVar level of evidence, should be redefined to include rs16947 but the final decision on this rests with the PharmVar CYP2D6 expert panel. Panel (b) shows the two alleles identified in a South African participant with the novel CYP2D6*41+rs141824015 (I339L) allele. Two suballeles of this haplotype have been predicted in the Luhya in Webuye, Kenya (LWK) from the 1000 Genomes Project data set and they are being characterized in a collaborative project with 3 labs led by PharmVar members. SNVs (single‐nucleotide variations) indicated in black text are from the “backbone” haplotype. HiFi, high fidelity; PharmVar, Pharmacogene Variation Consortium; SSA, sub‐Saharan Africa; XL‐PCR, long‐range polymerase chain reaction.