Gene Variant Detail

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Gene CBL
Variant Y371del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions CBL Y371del results in the deletion of one amino acid in the linker region of the Cbl protein at amino acid 371 (UniProt.org). Y371del results in decreased apoptosis, increased cell cycle progression, and transformation of cultured cells in the presence of FLT3 (PMID: 20622007, PMID: 31943762), and therefore is predicted to result in a loss of Cbl protein function.
Associated Drug Resistance

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Transcript NM_005188
gDNA chr11:g.119278182_119278184delACT
cDNA c.1112_1114delACT
Protein p.Y371delY
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011543057 chr11:g.119278182_119278184delACT c.1112_1114delACT p.Y371delY RefSeq GRCh38/hg38
XM_017018511 chr11:g.119285216_119285218delAAA c.1111_1113delAAA p.K371delK RefSeq GRCh38/hg38
NM_005188 chr11:g.119278182_119278184delACT c.1112_1114delACT p.Y371delY 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
CBL Y371del FLT3 pos hematologic cancer sensitive Midostaurin + PRT062607 Preclinical - Cell culture Actionable In a preclinical study, the addition of PRT062607 to treatment with Rydapt (midostaurin) resulted in enhanced inhibition of proliferation of cells expressing wild-type FLT3 and CBL Y371del in culture (PMID: 31943762). 31943762
CBL Y371del FLT3 pos hematologic cancer sensitive Gilteritinib Preclinical - Cell culture Actionable In a preclinical study, Xospata (gilteritinib) inhibited proliferation of cells expressing wild-type FLT3 and CBL Y371del in culture (PMID: 31943762). 31943762
CBL Y371del FLT3 pos hematologic cancer sensitive Crenolanib Preclinical - Cell culture Actionable In a preclinical study, Crenolanib inhibited proliferation of cells expressing wild-type FLT3 and CBL Y371del in culture (PMID: 31943762). 31943762
CBL Y371del FLT3 pos hematologic cancer sensitive Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) inhibited proliferation of cells expressing wild-type FLT3 and CBL Y371del in culture (PMID: 31943762). 31943762
CBL Y371del FLT3 pos hematologic cancer sensitive Sorafenib Preclinical - Cell culture Actionable In a preclinical study, Nexavar (sorafenib) inhibited proliferation of cells expressing wild-type FLT3 and CBL Y371del in culture (PMID: 31943762). 31943762
CBL Y371del FLT3 pos hematologic cancer sensitive Quizartinib Preclinical - Cell culture Actionable In a preclinical study, Quizartinib (AC220) inhibited proliferation of cells expressing wild-type FLT3 and CBL Y371del in culture (PMID: 31943762). 31943762
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, Quizartinib (AC220) reduced white blood cell counts and decreased myeloid cell invasion in a CBL mutant mouse model with myeloproliferative disorder (PMID: 22990016). 22990016
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
Molecular Profile Protein Effect Treatment Approaches
CBL Y371del loss of function - predicted
CBL Y371del FLT3 pos