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Gene | CSF3R |
Variant | S783Qfs*6 |
Impact List | frameshift |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CSF3R S783Qfs*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). S783Qfs*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 S783Qfs*6 |
Transcript | NM_000760.4 |
gDNA | chr1:g.36466526dupG |
cDNA | c.2346dupC |
Protein | p.S783Qfs*6 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000760.4 | chr1:g.36466526dupG | c.2346dupC | p.S783Qfs*6 | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36466526dupG | c.2346dupC | p.S783Qfs*6 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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 | 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 - 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 |