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Gene TET2
Variant R1440fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TET2 R1440fs results in a change in the amino acid sequence of the Tet2 protein beginning at aa 1440 of 2002, likely resulting in premature truncation of the functional protein (UniProt.org). R1440fs has not been characterized however, due to the effects of other truncation mutations downstream of R1440 (PMID: 24994606), is predicted to lead to a loss of Tet2 protein function.
Associated Drug Resistance
Category Variants Paths

TET2 mutant TET2 inact mut TET2 R1440fs

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Transcript NM_001127208.3
gDNA chr4:g.(105272698_105272699)
cDNA c.(4318_4317)
Protein p.R1440fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024454103.1 chr4:g.(105272698_105272699) c.(4318_4317) p.R1440fs RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.(105272698_105272699) c.(4318_4317) p.R1440fs RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.(105272698_105272699) c.(4318_4317) p.R1440fs RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.(105272698_105272699) c.(4318_4317) p.R1440fs RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.(105272698_105272699) c.(4318_4317) p.R1440fs RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.(105272698_105272699) c.(4318_4317) p.R1440fs RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.(105272698_105272699) c.(4318_4317) p.R1440fs RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.(105272698_105272699) c.(4318_4317) p.R1440fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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 angioimmunoblastic T-cell lymphoma not applicable N/A Guideline Diagnostic TET2 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org). detail...