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Gene DNMT3A
Variant E240*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions DNMT3A E240* results in a premature truncation of the Dnmt3a protein at amino acid 240 of 912 (UniProt.org). E240* has not been characterized, however, due to the effects of other truncation mutations downstream of E240 (PMID: 28872462, PMID: 26595813, PMID: 35639959), is predicted to lead to a loss of Dnmt3a protein function.
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A inact mut DNMT3A E240*

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Transcript NM_022552.5
gDNA chr2:g.25248174C>A
cDNA c.718G>T
Protein p.E240*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017003526.2 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_047443594.1 chr2:g.25246701C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_017003527.1 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38
NM_001320893.1 chr2:g.25246725C>A c.718G>T p.E240* RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_017003527.2 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_047443596.1 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_011532667.4 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_047443597.1 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38
NM_001375819.1 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_017003527 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_011532664.2 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_017003526 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_011532667 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38
NM_001320893.1 chr2:g.25246725C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_005264175 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_047443599.1 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_011532664 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
NM_001320893 chr2:g.25246725C>A c.718G>T p.E240* RefSeq GRCh38/hg38
NM_022552 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_011532667.3 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38
NM_175629 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_005264177 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.25248174C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_005264177.4 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38
XM_047443598.1 chr2:g.25246202C>A c.718G>T p.E240* RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
DNMT3A mutant acute myeloid leukemia sensitive Pinometostat Preclinical - Cell line xenograft Actionable In a preclinical study, Pinometostat (EPZ-5676) treatment of acute myeloid leukemia cell lines and xenografts resulted in apoptosis, cell-cycle arrest, and terminal differentiation (PMID: 27335278). 27335278
DNMT3A mutant acute myeloid leukemia resistant Olaparib Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia cells harboring a DNMT3A mutation along with FLT3-ITD and NPM1 mutation were resistant to Lynparza (olaparib) in culture (PMID: 34215619). 34215619
DNMT3A mutant angioimmunoblastic T-cell lymphoma not applicable N/A Guideline Diagnostic DNMT3A mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org). detail...
DNMT3A mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, mutations in DNMT3A were associated with poor prognosis and shorter overall survival in patients with acute myeloid leukemia (PMID: 22490330, PMID: 21881046, PMID: 21670448). 22490330 21881046 21670448
DNMT3A mutant myelofibrosis not applicable N/A Guideline Prognostic DNMT3A mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org). detail...
DNMT3A mutant acute myeloid leukemia predicted - sensitive Decitabine Clinical Study - Cohort Actionable In a clinical study, acute myeloid leukemia patients harboring DNMT3A mutations demonstrated a greater complete response rate (60% vs 33%) compared to patients with wild-type DNMT3A when treated with frontline hypomethylating agents such as Dacogen (decitabine) (PMID: 27418649). 27418649