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Gene DNMT3A
Variant S352N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions DNMT3A S352N lies within the DNMT1 and DNMT3B-interacting region of the Dnmt3a protein (UniProt.org). S352N has been identified in sequencing studies (PMID: 21993668), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

DNMT3A mutant DNMT3A S352N

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Transcript NM_022552.5
gDNA chr2:g.25247118C>T
cDNA c.1055G>A
Protein p.S352N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011532664.2 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38
XM_011532664 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38
XM_005264175.5 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38
NM_022552 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38
XM_017003526 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38
XM_017003526.1 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38
XM_005264175.6 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38
XM_005264175 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38
NM_022552.4 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38
NM_175629 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38
XM_011532664.3 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38
NM_175629.2 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38
XM_017003526.2 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38
XM_047443593.1 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38
NM_022552.5 chr2:g.25247118C>T c.1055G>A p.S352N RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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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 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 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 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 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