CSF3R S783Kfs*6
Gene Variant Detail

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Gene CSF3R
Variant S783Kfs*6
Impact List frameshift
Protein Effect gain of function - predicted
Gene Variant Descriptions CSF3R S783Kfs*6 indicates a shift in the reading frame starting at amino acid 783 and terminating 6 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). S783Kfs*6 has not been characterized, but is predicted to lead to a gain of Csf3r protein function based on the effects of a similar frameshift mutation at S783 (PMID: 23656643).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R S783fs CSF3R S783Kfs*6

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Transcript NM_000760.4
gDNA chr1:g.36466521dupT
cDNA c.2347dupA
Protein p.S783Kfs*6
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760.3 chr1:g.36466521dupT c.2347dupA p.S783Kfs*6 RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466521dupT c.2347dupA p.S783Kfs*6 RefSeq GRCh38/hg38

Filtering

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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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CSF3R S783fs chronic neutrophilic leukemia predicted - resistant Pyridone 6 Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a patient with chronic neutrophilic leukemia harboring CSF3R S783fs did not respond to treatment with Pyridone 6 (CMP6) in culture (PMID: 23656643). 23656643
CSF3R S783fs chronic neutrophilic leukemia predicted - sensitive Dasatinib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a patient with chronic neutrophilic leukemia harboring CSF3R S783fs demonstrated sensitive to treatment with Sprycel (dasatinib) in culture (PMID: 23656643). 23656643
CSF3R S783fs chronic neutrophilic leukemia predicted - resistant Tofacitinib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a patient with chronic neutrophilic leukemia harboring CSF3R S783fs did not respond to treatment with Xeljanz (tofacitinib) in culture (PMID: 23656643). 23656643
CSF3R S783fs chronic neutrophilic leukemia predicted - resistant Momelotinib Preclinical - Patient cell culture Actionable In a preclinical study, cells derived from a patient with chronic neutrophilic leukemia harboring CSF3R S783fs did not respond to treatment with Momelotinib (CYT387) in culture (PMID: 23656643). 23656643
CSF3R mutant bone marrow cancer not applicable N/A Clinical Study Emerging In clinical studies, high frequency of CSF3R mutations was identified in patients with chronic neutrophilic leukemia (PMID: 23656643, PMID: 24081659), suggesting that this may serve as a future diagnostic biomarker (PMID: 24441292). 24081659 23656643 24441292