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Gene SF3B1
Variant E17*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions SF3B1 E17* results in a premature truncation of the Sf3b1 protein at amino acid 17 of 1304 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E17* is predicted to lead to a loss of Sf3b1 protein function.
Associated Drug Resistance

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Transcript NM_012433.3
gDNA chr2:g.197423954C>A
cDNA c.49G>T
Protein p.E17*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001308824 chr2:g.197423954C>A c.49G>T p.E17* RefSeq GRCh38/hg38
NM_012433.3 chr2:g.197423954C>A c.49G>T p.E17* RefSeq GRCh38/hg38
NM_001005526.2 chr2:g.197423954C>A c.49G>T p.E17* RefSeq GRCh38/hg38
NM_001308824.1 chr2:g.197423954C>A c.49G>T p.E17* RefSeq GRCh38/hg38
NM_012433 chr2:g.197423954C>A c.49G>T p.E17* RefSeq GRCh38/hg38
NM_001005526 chr2:g.197423954C>A c.49G>T p.E17* 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
SF3B1 mutant myelofibrosis not applicable N/A Guideline Diagnostic SF3B1 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org). detail...
SF3B1 mutant myelodysplastic syndrome not applicable N/A Clinical Study Prognostic In multiple clinical studies, SF3B1 mutations were associated with better overall survival in patients with myelodysplastic syndrome (PMID: 21998214, PMID: 22096241, PMID: 24220272), but may not have independent prognostic significance (PMID: 22096241). 22096241 21998214 24220272
SF3B1 mutant acute myeloid leukemia predicted - sensitive GSK3203591 Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia cell lines harboring mutations in U2AF1 (n=3), SRSF2 (n=9), or SF3B1 (n=4) demonstrated increased sensitivity to GSK3203591 compared to spliceosomal wild-type cell lines in culture (PMID: 31408619). 31408619
SF3B1 mutant chronic lymphocytic leukemia predicted - sensitive Ibrutinib + Sudemycin D1 Preclinical - Patient cell culture Actionable In a preclinical study, Sudemycin D1 and Imbruvica (ibrutinib) combination treatment resulted in enhanced cytotoxicity in chronic lymphocytic leukemia cells derived from patients harboring SF3B1 mutations in culture (PMID: 26068951). 26068951
SF3B1 mutant essential thrombocythemia not applicable N/A Guideline Prognostic The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia, SF3B1 mutations are also associated with inferior myelofibrosis-free survival (NCCN.org). detail...
SF3B1 mutant uveal melanoma not applicable N/A Guideline Risk Factor SF3B1 mutations are associated with medium risk of developing distant metastasis in uveal melanoma (NCCN.org). detail...
SF3B1 mutant chronic lymphocytic leukemia predicted - sensitive Sudemycin D6 Preclinical - Pdx Actionable In a preclinical study, Sudemycin D6 treatment reduced tumor cells in the spleen and peripheral blood in patient-derived xenograft (PDX) models of chronic lymphocytic leukemia harboring SF3B1 mutations (PMID: 26068951). 26068951
SF3B1 mutant chronic lymphocytic leukemia predicted - sensitive Sudemycin D1 Preclinical - Patient cell culture Actionable In a preclinical study, Sudemycin D1 treatment resulted in increased cytotoxicity (p<0.05) in chronic lymphocytic leukemia cells derived from patients harboring mutations in SF3B1 (n=14) or other RNA splicing/processing genes (n=8) compared to cells derived from patients without mutations (n=10) in culture (PMID: 26068951). 26068951
Molecular Profile Protein Effect Treatment Approaches
SF3B1 E17* loss of function - predicted