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Gene DNMT3A
Variant F909C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions DNMT3A F909C lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). F909C has been identified in sequencing studies (PMID: 22817890, PMID: 21067377), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Jul 2020).
Associated Drug Resistance

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Transcript NM_022552
gDNA chr2:g.25234292A>C
cDNA c.2726T>G
Protein p.F909C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017003526 chr2:g.25234292A>C c.2726T>G p.F909C RefSeq GRCh38/hg38
XM_005264175 chr2:g.25234292A>C c.2726T>G p.F909C RefSeq GRCh38/hg38
NM_175629 chr2:g.25234292A>C c.2726T>G p.F909C RefSeq GRCh38/hg38
NM_022552 chr2:g.25234292A>C c.2726T>G p.F909C RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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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 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 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 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 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 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 F909C unknown