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Gene CEBPA
Variant A44Pfs*63
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CEBPA A44Pfs*63 likely results in a premature truncation of the 358 aa Cebpa protein at aa 44, followed by 63 nonsense amino acids (UniProt.org). A44Pfs*63 has not been characterized, however other frameshifts cause alternate translation and the resulting isoform inhibits Cepba DNA binding (PMID: 11242107), thus A44Pfs*63 is predicted to lead to a loss of Cebpa protein function.
Associated Drug Resistance

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Transcript NM_004364
gDNA chr19:g.33302285_33302286delCG
cDNA c.130_131delGC
Protein p.A44Pfs*63
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004364 chr19:g.33302285_33302286delCG c.130_131delGC p.A44Pfs*63 RefSeq GRCh38/hg38
NM_001287424 chr19:g.(33302199_33302390) c.(130_321) p.A44Pfs*63 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CEBPA mutant acute myeloid leukemia predicted - sensitive Momelotinib Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia (AML) cells harboring biallelic CEBPA mutations demonstrated increased sensitivity to Momelotinib (CYT387) compared to control AML cells in culture (PMID: 27034432). 27034432
CEBPA mutant acute myeloid leukemia predicted - sensitive Tofacitinib Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia (AML) cells harboring biallelic CEBPA mutations demonstrated increased sensitivity to Xeljanz (tofacitinib) compared to control AML cells in culture (PMID: 27034432). 27034432
CEBPA mutant acute myeloid leukemia not applicable N/A Guideline Prognostic CEBPA biallelic mutations are associated with a favorable prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
CEBPA mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, biallelic CEBPA mutations were associated with favorable clinical outcome in patients with cytogenetically normal acute myeloid leukemia (PMID: 26601784, PMID: 19171880, PMID: 20038735, PMID: 22915647). 22915647 26601784 19171880 20038735
CEBPA mutant acute myeloid leukemia predicted - sensitive AZD1480 Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia (AML) cells harboring biallelic CEBPA mutations demonstrated increased sensitivity to AZD1480 compared to control AML cells in culture (PMID: 27034432). 27034432
CEBPA mutant acute myeloid leukemia predicted - sensitive Ruxolitinib Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia (AML) cells harboring biallelic CEBPA mutations demonstrated increased sensitivity to Jakafi (ruxolitinib) compared to control AML cells in culture (PMID: 27034432). 27034432
Molecular Profile Protein Effect Treatment Approaches
CEBPA A44Pfs*63 loss of function - predicted