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Gene TET2
Variant S393Lfs*34
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TET2 S393Lfs*34 indicates a shift in the reading frame starting at amino acid 393 and terminating 34 residues downstream causing a premature truncation of the 2002 amino acid Tet2 protein (UniProt.org). S393Lfs*34 has not been characterized however, due to the effects of other truncation mutations downstream of S393 (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 S393Lfs*34

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Transcript NM_001127208.3
gDNA chr4:g.105235120delC
cDNA c.1178delC
Protein p.S393Lfs*34
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008319 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
NM_017628.4 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_024454102.2 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_017008319.2 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_047415840.1 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_047415843.1 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
NM_017628.4 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_006714242.4 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_024454103.2 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_047415839.1 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
NM_001127208.3 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_005263082.3 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_006714242.3 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_047415841.1 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
NM_001127208.2 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_024454102.1 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
NM_017628 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_017008319.1 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_005263082.4 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_005263082 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
NM_001127208 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_024454103.1 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_006714242 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38
XM_047415842.1 chr4:g.105235120delC c.1178delC p.S393Lfs*34 RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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
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...
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 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