Gene Variant Detail

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Gene ETV6
Variant S105fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ETV6 S105fs (corresponds to S106 in the canonical isoform) results in a change in the amino acid sequence of the Etv6 protein beginning at aa 105 of 451, likely resulting in premature truncation of the functional protein (UniProt.org). S105fs fails to repress transcriptional activity and reduces the effect of wild-type Etv6 protein in a reporter assay (PMID: 22162831), and therefore, is predicted to lead to a loss of Etv6 protein function.
Associated Drug Resistance

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Transcript XM_011520607
gDNA chr12:g.(11839291_11839292)
cDNA c.(313_312)
Protein p.S105fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011520611 chr12:g.(11869536_11869537) c.(313_312) p.S105fs RefSeq GRCh38/hg38
XM_011520609 chr12:g.(11869536_11869537) c.(313_312) p.S105fs RefSeq GRCh38/hg38
XM_017018991 chr12:g.(11869536_11869537) c.(313_312) p.S105fs RefSeq GRCh38/hg38
XM_011520607 chr12:g.(11839291_11839292) c.(313_312) p.S105fs RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ETV6 inact mut acute lymphoblastic leukemia not applicable N/A Clinical Study Risk Factor In multiple clinical studies, ETV6 inactivating germline mutations were shown to be a risk factor for the development of acute lymphocytic leukemia (PMID: 26522332, PMID: 26102509, PMID: 25807284). 25807284 26102509 26522332
ETV6 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic ETV6 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
ETV6 mutant myelodysplastic syndrome not applicable N/A Clinical Study Prognostic In multiple clinical studies, ETV6 mutations were associated with a shorter overall survival in patients with myelodysplastic syndrome (PMID: 21714648, PMID: 21877899, PMID: 26769228). 21877899 26769228 21714648
Molecular Profile Protein Effect Treatment Approaches
ETV6 S105fs loss of function - predicted