A second individual, who had CM (at age 76 years), prostate cancer (at 86 years) and chronic myeloid leukaemia (at age 88 years), had a novel splice variant, 2bp into the intron after exon 18 of DNMT3A; this variant is of unknown functional consequence. This evidence concerns the gene DNMT3A and chronic myelogenous leukemia, BCR-ABL1 positive.