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Gene | TET2 |
Variant | H924R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TET2 H924R does not lie within any known functional domains of the Tet2 protein (UniProt.org). H924R has been identified in sequencing studies (PMID: 26984174), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TET2 mutant TET2 H924R |
Transcript | NM_001127208.3 |
gDNA | chr4:g.105236713A>G |
cDNA | c.2771A>G |
Protein | p.H924R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_017628.4 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
NM_001127208 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_017008319.1 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_024454102.1 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_005263082.3 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_005263082 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_005263082.4 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_006714242.3 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_047415842.1 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_047415843.1 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_006714242 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_047415839.1 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
NM_017628.4 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_047415840.1 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_047415841.1 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_017008319 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_024454103.1 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
NM_001127208.2 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_017008319.2 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
NM_017628 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_006714242.4 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_024454102.2 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
XM_024454103.2 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
NM_001127208.3 | chr4:g.105236713A>G | c.2771A>G | p.H924R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TET2 mutant | myelofibrosis | not applicable | N/A | Guideline | Diagnostic | TET2 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org). | detail... |
TET2 mutant | acute myeloid leukemia | predicted - sensitive | Azacitidine | Phase I | Actionable | In a retrospective analysis, presence of a TET2 mutation correlated with higher overall response rate (ORR) in patients with myelodysplastic syndrome and acute myeloid leukemia following treatment with Vidaza (azacitidine), with an ORR of 85% (11/3) in TET2-mutated patients, compared to 47% (34/47) in patients with wild-type TET2, but did not correlate with overall survival (PMID: 21494260). | 21494260 |
TET2 mutant | acute myeloid leukemia | not applicable | N/A | Clinical Study | Prognostic | In multiple clinical studies, including a meta-analysis, TET2 mutations were associated with shorter overall survival in patients with acute myeloid leukemia (PMID: 24524305, PMID: 25412851, PMID: 24994606). | 24524305 25412851 24994606 |
TET2 mutant | acute myeloid leukemia | sensitive | Olaparib | Preclinical - Patient cell culture | Actionable | In a preclinical study, Lynparza (olaparib) treatment inhibited colony formation in patient-derived acute myeloid leukemia cells harboring a TET2 mutation along with FLT3-ITD and NPM1 mutation in culture (PMID: 34215619). | 34215619 |
TET2 mutant | angioimmunoblastic T-cell lymphoma | not applicable | N/A | Guideline | Diagnostic | TET2 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org). | detail... |