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Gene DNMT3A
Variant G590fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions DNMT3A G590fs results in a change in the amino acid sequence of the Dnmt3a protein beginning at aa 590 of 912, likely resulting in premature truncation of the functional protein (UniProt.org). G590fs has not been characterized however, due to the effects of other truncation mutations downstream of G590 (PMID: 28872462, PMID: 26595813), G590fs is predicted to lead to a loss of Dnmt3a protein function.
Associated Drug Resistance

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Transcript NM_022552
gDNA chr2:g.(25244238_25244239)
cDNA c.(1768_1767)
Protein p.G590fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011532664 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
XM_005264175 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
XM_017003526 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
NM_022552 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38
NM_175629 chr2:g.(25244238_25244239) c.(1768_1767) p.G590fs RefSeq GRCh38/hg38

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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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
Molecular Profile Protein Effect Treatment Approaches
DNMT3A G590fs loss of function - predicted