Gene Variant Detail

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Gene CBL
Variant Y92A
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions CBL Y92A lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). Y92A does not impair E3 ubiquitin ligase activity and demonstrates similar levels of Egfr ubiquitination compared to wild-type Cbl in cell culture (PMID: 10635327), and therefore, is predicted to have no effect on Cbl protein function.
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL Y92A

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Transcript NM_005188.4
gDNA chr11:g.119232526_119232527delTAinsGC
cDNA c.274_275delTAinsGC
Protein p.Y92A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.4 chr11:g.119232526_119232527delTAinsGC c.274_275delTAinsGC p.Y92A RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119232526_119232527delTAinsGC c.274_275delTAinsGC p.Y92A RefSeq GRCh38/hg38
NM_005188 chr11:g.119232526_119232527delTAinsGC c.274_275delTAinsGC p.Y92A RefSeq GRCh38/hg38
XM_011543057 chr11:g.119232526_119232527delTAinsGC c.274_275delTAinsGC p.Y92A RefSeq GRCh38/hg38

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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
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...
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