BTK L528W
Gene Variant Detail

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Gene BTK
Variant L528W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BTK L528W lies within the protein kinase domain of the Btk protein (UniProt.org). L528W confers resistance to BTK inhibitors in culture (PMID: 35196427, PMID: 36183831, PMID: 39728925), results in loss of kinase activity in in vitro assays (PMID: 36183831, PMID: 38301010), increased calcium ion flux and decreased Btk and Plcg2 phosphorylation in culture (PMID: 35196427), but retains downstream signaling (PMID: 35196427) and calcium ion flux similar to wild-type in a different study (PMID: 36183831), and therefore, its effect on Btk protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

BTK mutant BTK L528W

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Transcript NM_000061.3
gDNA chrX:g.101354678A>C
cDNA c.1583T>G
Protein p.L528W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061.2 chrX:g.101354678A>C c.1583T>G p.L528W RefSeq GRCh38/hg38
NM_000061.3 chrX:g.101354678A>C c.1583T>G p.L528W RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BTK L528W diffuse large B-cell lymphoma resistant Pirtobrutinib Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line expressing BTK L528W demonstrated resistance to Jaypirca (pirtobrutinib) in culture (PMID: 35196427). 35196427
BTK L528W diffuse large B-cell lymphoma resistant Pirtobrutinib Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line expressing BTK L528W demonstrated resistance to Jaypirca (pirtobrutinib) in culture (PMID: 38301010). 38301010
BTK L528W chronic lymphocytic leukemia predicted - resistant Pirtobrutinib Case Reports/Case Series Actionable In a clinical case study, 2 patients with chronic lymphocytic leukemia who previously responded to Jaypirca (pirtobrutinib) treatment were found to have acquired BTK L528W upon disease progression (PMID: 35196427). 35196427
BTK L528W diffuse large B-cell lymphoma resistant Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line expressing BTK L528W demonstrated resistance to Imbruvica (ibrutinib) in culture (PMID: 35196427). 35196427
BTK L528W diffuse large B-cell lymphoma resistant Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line expressing BTK L528W demonstrated resistance to Imbruvica (ibrutinib) in culture (PMID: 38301010). 38301010
BTK L528W diffuse large B-cell lymphoma resistant Ibrutinib Preclinical - Cell culture Actionable In a preclinical study, diffuse large B-cell lymphoma cell lines expressing BTK L528W demonstrated resistance to Imbruvica (ibrutinib) in culture (PMID: 36183831). 36183831
BTK L528W diffuse large B-cell lymphoma resistant Fenebrutinib Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line expressing BTK L528W demonstrated resistance to Fenebrutinib (GDC-0853) in culture (PMID: 35196427). 35196427
BTK L528W diffuse large B-cell lymphoma resistant Vecabrutinib Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line expressing BTK L528W demonstrated resistance to Vecabrutinib (SNS-062) in culture (PMID: 35196427). 35196427
BTK L528W diffuse large B-cell lymphoma predicted - sensitive NX-5948 Preclinical - Cell culture Actionable In a preclinical study, NX-5948 inhibited Btk signaling and proliferation of a diffuse large B-cell lymphoma cell line expressing BTK L528W in culture (Cancer Res (2023) 83 (7_Supplement): 2850). detail...
BTK L528W chronic lymphocytic leukemia predicted - resistant Tirabrutinib Case Reports/Case Series Actionable In Phase I trials, two patients with chronic lymphocytic leukemia progressed on treatment with Tirabrutinib (ONO-4059) and each were subsequently found to have acquired BTK L528W (PMID: 37257190; NCT01659255 and NCT02457598). 37257190
BTK L528W diffuse large B-cell lymphoma sensitive NX-2127 Preclinical - Cell culture Actionable In a preclinical study, NX-2127 inhibited viability of a diffuse large B-cell lymphoma cell line expressing BTK L528W in culture (PMID: 38301010). 38301010
BTK L528W diffuse large B-cell lymphoma resistant Zanubrutinib Preclinical - Cell culture Actionable In a preclinical study, a diffuse large B-cell lymphoma cell line expressing BTK L528W demonstrated resistance to Brukinsa (zanubrutinib) in culture (PMID: 38301010). 38301010
BTK L528W lymphoma predicted - sensitive DZD8586 Preclinical - Cell culture Actionable In a preclinical study, DZD8586 inhibited proliferation of lymphoma cells expressing BTK L528W in culture (Blood (2023) 142 (Supplement 1): 2822). detail...