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Gene | CBL |
Variant | M487V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL M487V lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). M487V confers a loss of function to the Cbl protein as demonstrated by decreased Egfr ubiquitination and increased phosphorylation of Erk upon Egf stimulation in cultured cells (PMID: 36495474). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL inact mut CBL M487V |
Transcript | NM_005188.4 |
gDNA | chr11:g.119284996A>G |
cDNA | c.1459A>G |
Protein | p.M487V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017018511 | chr11:g.119285564A>G | c.1459A>G | p.M487V | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119284996A>G | c.1459A>G | p.M487V | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119284996A>G | c.1459A>G | p.M487V | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119284996A>G | c.1459A>G | p.M487V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CBL mutant | myelodysplastic/myeloproliferative neoplasm | not applicable | N/A | Clinical Study | Prognostic | In clinical analyses, mutations in CBL were associated with adverse prognosis in patients with chronic myelomonocytic leukemia (PMID: 26230957, PMID: 23690417, PMID: 19901108). | 26230957 19901108 23690417 |
CBL mutant | myelofibrosis | not applicable | N/A | Guideline | Prognostic | CBL mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org). | detail... |
CBL mutant | bone marrow cancer | sensitive | Quizartinib | Preclinical | Actionable | In a preclinical study, Vanflyta (quizartinib) reduced white blood cell counts and decreased myeloid cell invasion in a CBL mutant mouse model with myeloproliferative disorder (PMID: 22990016). | 22990016 |
CBL mutant | systemic mastocytosis | not applicable | N/A | Guideline | Prognostic | CBL mutations are associated with an adverse prognosis in patients with systemic mastocytosis (NCCN.org). | detail... |