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Gene TET2
Variant P1617H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TET2 P1617H lies within the catalytic domain of the Tet2 protein (PMID: 24315485). P1617H confers a loss of function to the Tet2 protein as demonstrated by the inability of P1617H to inhibit cell proliferation, lack of WT1 binding and regulation of WT1 target genes, and reduced enzymatic conversion of 5mC in culture (PMID: 25601757).
Associated Drug Resistance
Category Variants Paths

TET2 mutant TET2 inact mut TET2 P1617H

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Transcript NM_001127208.3
gDNA chr4:g.105275360C>A
cDNA c.4850C>A
Protein p.P1617H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024454103.2 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
NM_001127208 chr4:g.105275360C>A c.4850C>A p.P1617H RefSeq GRCh38/hg38
XM_005263082 chr4:g.105275360C>A c.4850C>A p.P1617H 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 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 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 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 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 angioimmunoblastic T-cell lymphoma not applicable N/A Guideline Diagnostic TET2 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org). detail...