Identification and interpretation of TET2 noncanonical splicing site intronic variants in myeloid neoplasm patients

Background: DNA hypermethylation and instability due to inactivation mutations in Ten–eleven translocation 2 (TET2) is a key biomarker of hematological malignancies. This study aims at characterizing two intronic noncanonical splice-site variants, c.3954+5_3954+8delGTTT c.3954+5G>A. Methods: We used silico prediction tools, reverse transcription (RT)-PCR, Sanger sequencing on blood/bone marrow-derived RNA specimens determine the aberrant splicing. Results: In both variants exhibited reduced splicing strength TET2 intron 7 donor site. RT-PCR identified 62-bp deletion exon 7, producing frameshift mutation, p.Cys1298*. Conclusion: provides functional evidence for that cause alternative mutation.