Gene Variant Detail

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Gene BTK
Variant C481T
Impact List missense
Protein Effect no effect
Gene Variant Descriptions BTK C481T lies within the protein kinase domain of the Btk protein (UniProt.org). C481T demonstrates kinase activity similar to wild-type Btk, but confers Imbruvica (ibrutinib) resistance in cell culture (PMID: 27282255).
Associated Drug Resistance Y

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Transcript NM_000061.2
gDNA chrX:g.101356176_101356177delTGinsAC
cDNA c.1441_1442delTGinsAC
Protein p.C481T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061 chrX:g.101356176_101356177delCAinsGT c.1441_1442delTGinsAC p.C481T RefSeq GRCh38/hg38
NM_000061.2 chrX:g.101356176_101356177delTGinsAC c.1441_1442delTGinsAC p.C481T RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • 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
BTK C481T Advanced Solid Tumor resistant Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing BTK C481T were resistant to Imbruvica (ibrutinib) in culture (PMID: 27282255). 27282255
BTK C481T lymphoma resistant Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, lymphoma cells over expressing BTK C481T were resistant to Imbruvica (ibrutinib) in culture (PMID: 27282255). 27282255
BTK C481T Advanced Solid Tumor predicted - sensitive RN486 Preclinical - Biochemical Actionable In a preclinical study, treatment with RN486 resulted in reduced Btk activity in a cell line expressing BTK C481T in culture (PMID: 33526860). 33526860
BTK T474M BTK C481T Advanced Solid Tumor predicted - resistant Acalabrutinib Preclinical - Biochemical Actionable In a preclinical study, treatment with Calquence (acalabrutinib) failed to inhibit Btk activity in a cell line expressing BTK variants T474M and C481T in culture (PMID: 33526860). 33526860
BTK T474M BTK C481T Advanced Solid Tumor predicted - resistant CGI1746 Preclinical - Biochemical Actionable In a preclinical study, treatment with CGI1746 failed to inhibit Btk activity in a cell line expressing BTK variants T474M and C481T in culture (PMID: 33526860). 33526860
BTK T474M BTK C481T Advanced Solid Tumor predicted - resistant Ibrutinib Preclinical - Biochemical Actionable In a preclinical study, treatment with Imbruvica (ibrutinib) failed to inhibit Btk activity in a cell line expressing BTK variants T474M and C481T in culture (PMID: 33526860). 33526860
BTK T474M BTK C481T Advanced Solid Tumor predicted - sensitive Fenebrutinib Preclinical - Biochemical Actionable In a preclinical study, treatment with Fenebrutinib (GDC-0853) resulted in reduced Btk activity in a cell line expressing BTK variants T474M and C481T in culture (PMID: 33526860). 33526860
BTK T474M BTK C481T Advanced Solid Tumor predicted - sensitive RN486 Preclinical - Biochemical Actionable In a preclinical study, treatment with RN486 resulted in reduced Btk activity in a cell line expressing BTK variants T474M and C481T in culture (PMID: 33526860). 33526860
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BTK C481X chronic lymphocytic leukemia predicted - resistant Ibrutinib Phase II Actionable In a Phase II trial, BTK C481X and/or PLCG2 mutations were identified in 80% (8/10) of patients with progressive disease and in 20% (1/5) of patients with prolymphocytic transformation of chronic lymphocytic leukemia while on Imbruvica (ibrutinib) treatment (PMID: 28049639, NCT01500733). 28049639
Molecular Profile Protein Effect Treatment Approaches
BTK C481T no effect
BTK T474M BTK C481T