Gene Variant Detail

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Gene CBL
Variant Y371H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CBL Y371H lies within the linker region of the Cbl protein (PMID: 20622007). Y371H results in a loss of Cbl ubiquitin ligase activity, leading to activation of FLT3, AKT, and STAT5, and transformation of cultured cells when co-expressed with FLT3 or KIT (PMID: 23696637, PMID: 20622007).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL Y371H

CBL mutant CBL inact mut CBL Y371H

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Transcript NM_005188.4
gDNA chr11:g.119278181T>C
cDNA c.1111T>C
Protein p.Y371H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.3 chr11:g.119278181T>C c.1111T>C p.Y371H RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278181T>C c.1111T>C p.Y371H RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278181T>C c.1111T>C p.Y371H RefSeq GRCh38/hg38
NM_005188 chr11:g.119278181T>C c.1111T>C p.Y371H RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CBL Y371H FLT3 wild-type hematologic cancer decreased response Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited growth of transformed hematologic cells expressing CBL Y371H and wild-type FLT3 in culture with reduced potency compared to other kinase inhibitors (PMID: 31309543). 31309543
CBL Y371H FLT3 wild-type hematologic cancer sensitive Crenolanib Preclinical - Cell culture Actionable In a preclinical study, Crenolanib inhibited growth of transformed hematologic cells expressing CBL Y371H and wild-type FLT3 in culture (PMID: 31309543). 31309543
CBL Y371H FLT3 wild-type hematologic cancer sensitive Quizartinib Preclinical - Cell culture Actionable In a preclinical study, Vanflyta (quizartinib) inhibited growth of transformed hematologic cells expressing CBL Y371H and wild-type FLT3 in culture (PMID: 31309543). 31309543
CBL Y371H FLT3 wild-type hematologic cancer sensitive Gilteritinib Preclinical - Cell culture Actionable In a preclinical study, Xospata (gilteritinib) inhibited growth of transformed hematologic cells expressing CBL Y371H and wild-type FLT3 in culture (PMID: 31309543). 31309543
CBL Y371H FLT3 wild-type hematologic cancer sensitive Midostaurin Preclinical Actionable In a preclinical study, Rydapt (midostaurin) inhibited growth of transformed hematologic cells expressing CBL Y371H and wild-type FLT3 in culture, reduced leukemia burden and prolonged survival in animal models (PMID: 31309543). 31309543
CBL Y371H FLT3 wild-type hematologic cancer sensitive Sorafenib Preclinical - Cell culture Actionable In a preclinical study, Nexavar (sorafenib) inhibited growth of transformed hematologic cells expressing CBL Y371H and wild-type FLT3 in culture (PMID: 31309543). 31309543
CBL Y371H FLT3 pos hematologic cancer sensitive Midostaurin Preclinical - Cell line xenograft Actionable In a preclinical study, Rydapt (midostaurin) inhibited proliferation of cells expressing wild-type FLT3 and CBL Y371H in culture, and inhibited leukemic growth and prolonged survival in cell line xenograft models expressing FLT3 and CBL Y371H (PMID: 31943762). 31943762
CBL Y371H 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 Y371H in culture (PMID: 31943762). 31943762
CBL Y371H 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 Y371H in culture (PMID: 31943762). 31943762
CBL Y371H 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 Y371H in culture (PMID: 31943762). 31943762
CBL Y371H FLT3 pos hematologic cancer sensitive Quizartinib Preclinical - Cell culture Actionable In a preclinical study, Vanflyta (quizartinib) inhibited proliferation of cells expressing wild-type FLT3 and CBL Y371H in culture (PMID: 31943762). 31943762
CBL Y371H 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 Y371H in culture (PMID: 31943762). 31943762
CBL Y371H FLT3 pos hematologic cancer sensitive PRT062607 + Quizartinib Preclinical - Cell culture Actionable In a preclinical study, the addition of PRT062607 to treatment with Vanflyta (quizartinib) resulted in enhanced inhibition of proliferation of cells expressing wild-type FLT3 and CBL Y371H in culture (PMID: 31943762). 31943762
CBL Y371H FLT3 pos hematologic cancer sensitive PRT062607 + Sorafenib Preclinical - Cell culture Actionable In a preclinical study, the addition of PRT062607 to treatment with Nexavar (sorafenib) resulted in enhanced inhibition of proliferation of cells expressing wild-type FLT3 and CBL Y371H in culture (PMID: 31943762). 31943762