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| Gene | DNMT3A |
| Variant | P569_A574del |
| Impact List | deletion |
| Protein Effect | unknown |
| Gene Variant Descriptions | DNMT3A P569_A574del results in the deletion of six amino acids in the ADD domain of the Dnmt3a protein from amino acids 569 to 574 (UniProt.org). P569_A574del has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
DNMT3A mutant DNMT3A P569_A574del |
| Transcript | NM_022552.5 |
| gDNA | chr2:g.25244284_25244301del18 |
| cDNA | c.1705_1722del18 |
| Protein | p.P569_A574delPGAAQA |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001320893.1 | chr2:g.25240448_25240654del207 | c.1706_1723del207 | p.K569_G574delKGLYEG | RefSeq | GRCh38/hg38 |
| XM_011532666.3 | chr2:g.25240374_25240391del18 | c.1705_1722del18 | p.E569_P574delEGDDRP | RefSeq | GRCh38/hg38 |
| NM_022552 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574del | RefSeq | GRCh38/hg38 |
| XM_011532664 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574del | RefSeq | GRCh38/hg38 |
| XM_005264175.6 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574delPGAAQA | RefSeq | GRCh38/hg38 |
| NM_001375819.1 | chr2:g.25239148_25239165del18 | c.1706_1723del18 | p.R569_N574delRYFWGN | RefSeq | GRCh38/hg38 |
| XM_005264175.5 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574del | RefSeq | GRCh38/hg38 |
| XM_047443594.1 | chr2:g.25240423_25240440del18 | c.1705_1722del18 | p.R569_F574delRLFFEF | RefSeq | GRCh38/hg38 |
| NM_175629 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574del | RefSeq | GRCh38/hg38 |
| XM_011532664.3 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574delPGAAQA | RefSeq | GRCh38/hg38 |
| XM_017003526.1 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574del | RefSeq | GRCh38/hg38 |
| XM_017003526 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574del | RefSeq | GRCh38/hg38 |
| XM_047443597.1 | chr2:g.25239148_25239165del18 | c.1706_1723del18 | p.R569_N574delRYFWGN | RefSeq | GRCh38/hg38 |
| XM_047443596.1 | chr2:g.25239148_25239165del18 | c.1706_1723del18 | p.R569_N574delRYFWGN | RefSeq | GRCh38/hg38 |
| NM_022552.4 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574del | RefSeq | GRCh38/hg38 |
| NM_175629.2 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574delPGAAQA | RefSeq | GRCh38/hg38 |
| NM_153759.3 | chr2:g.25240336_25240353del18 | c.1705_1722del18 | p.V569_V574delVVAMGV | RefSeq | GRCh38/hg38 |
| XM_011532662.3 | chr2:g.25243965_25243982del18 | c.1705_1722del18 | p.D569_Y574delDPPKVY | RefSeq | GRCh38/hg38 |
| XM_005264175 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574del | RefSeq | GRCh38/hg38 |
| NM_175629.2 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574del | RefSeq | GRCh38/hg38 |
| XM_011532667.4 | chr2:g.25239148_25239165del18 | c.1706_1723del18 | p.R569_N574delRYFWGN | RefSeq | GRCh38/hg38 |
| XM_011532664.2 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574del | RefSeq | GRCh38/hg38 |
| XM_017003527.2 | chr2:g.25239148_25239165del18 | c.1706_1723del18 | p.R569_N574delRYFWGN | RefSeq | GRCh38/hg38 |
| NM_022552.5 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574delPGAAQA | RefSeq | GRCh38/hg38 |
| XM_047443592.1 | chr2:g.25241625_25241642del18 | c.1705_1722del18 | p.D569_G574delDSITVG | RefSeq | GRCh38/hg38 |
| XM_047443598.1 | chr2:g.25239148_25239165del18 | c.1706_1723del18 | p.R569_N574delRYFWGN | RefSeq | GRCh38/hg38 |
| XM_047443593.1 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574delPGAAQA | RefSeq | GRCh38/hg38 |
| XM_017003526.2 | chr2:g.25244284_25244301del18 | c.1705_1722del18 | p.P569_A574delPGAAQA | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| 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 | 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 | 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 | 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 |
| 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 | 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 |