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Table 2 Summary of genotyped CYP2D6 variants and associated phenotype

From: CYP2D6 phenotype, tamoxifen, and risk of contralateral breast cancer in the WECARE Study

Allele SNP (RefSeq)a Variant CYP2D6 activity Activity score valueb Phenotype
CYP2D6*1 NA Wild type Normal 1 EM
CYP2D6*2 rs16947, rs1135840 2850C > T, 4180G > C Normal 1 EM
CYP2D6*3 rs35742686 2549delA Inactive 0 EM
CYP2D6*4 rs3892097 1846G > A, Inactive 0 PM
CYP2D6*5 NA Full gene deletion Inactive 0 PM
CYP2D6*6 rs5030655 1707delT Inactive 0 PM
CYP2D6*9 rs5030656 2615_2617del AAG Reduced 0.5 IM
CYP2D6*10 rs1065852, rs1135840 100C > T, 4180G > C Reduced 0.5 IM
CYP2D6*41 rs28371725 2988G > A Reduced 0.5 IM
  1. SNP single nucleotide polymorphism, RefSeq reference sequence, NA not applicable, EM extensive metabolizer, PM poor metabolizer, IM intermediate metabolizer
  2. aWhere more than one SNP is listed for a given allele, a variant at only one loci needed to be present to classify an individual as having that allele
  3. bActivity score (AS) calculated as the sum of the activity score value for each allele held by an individual for a range of values from 0 to 2. One exception to this is the instance of individuals carrying two IM (reduced activity) alleles, where we provided a distinction between individuals classified as EM/PM (AS = 1), IM/IM (AS = 0.75), and IM/PM (AS = 0.5)