DNMT3A

Tumor Suppressor
Highest level of evidence:Level Dx2
DNMT3A, a tumor suppressor and DNA methyltransferase, is recurrently mutated in acute myeloid leukemia and other hematologic malignancies
Show DNMT3A background
NCBI Gene1788
Ensembl GeneENSG00000119772 (GRCh37/GRCh38)
Location
Chr2:25455845-25565459 (GRCh37)
Chr2:25227855-25342590 (GRCh38)
Ensembl TranscriptENST00000264709 (GRCh37/GRCh38)
RefSeqNM_022552.4 (GRCh37/GRCh38)
Annotated Mutations in MSK-IMPACT™ Clinical Sequencing Cohort (Zehir et al., Nat Med 2017)
Cancer Types with DNMT3A Mutations
Non-Hodgkin LymphomaGliomaThyroid CancerEndometrial CancerSkin Cancer, Non-MelanomaBladder CancerSmall Cell Lung CancerUterine SarcomaCancer of Unknown PrimaryMelanomaMesotheliomaNon-Small Cell Lung CancerHepatobiliary CancerColorectal CancerBreast Cancer% altered2.04.06.08.0
A list of diagnostic DNMT3A alterations and the corresponding OncoKB™ diagnostic level of evidence. Diagnostic implications are curated for hematologic malignancies only.
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