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Gene SMARCA4
Variant P1504L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions SMARCA4 P1504L lies within the Bromo domain of the Smarca4 protein (UniProt.org). P1504L has not been characterized in the scientific literature and therefore, its effect on Smarca4 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 P1504L

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Transcript NM_003072.5
gDNA chr19:g.11058341C>T
cDNA c.4511C>T
Protein p.P1504L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001128844.3 chr19:g.11058341C>T c.4511C>T p.P1504L RefSeq GRCh38/hg38
NM_001128844 chr19:g.11058341C>T c.4511C>T p.P1504L RefSeq GRCh38/hg38
NM_003072 chr19:g.11058341C>T c.4511C>T p.P1504L RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11058341C>T c.4511C>T p.P1504L RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.11058341C>T c.4511C>T p.P1504L RefSeq GRCh38/hg38
NM_003072.3 chr19:g.11058341C>T c.4511C>T p.P1504L RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11058341C>T c.4511C>T p.P1504L RefSeq GRCh38/hg38

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  • 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
SMARCA4 mutant lung non-small cell carcinoma predicted - sensitive PRT3789 Phase I Actionable In a Phase I trial, PRT3789 treatment was well tolerated and resulted in partial responses, tumor shrinkage, and prolonged stable disease in patients with advanced esophageal cancer (N=2) or non-small cell lung cancer (N=18) harboring SMARCA4 mutations (Ann Oncol (2024) 35 (suppl_2): S483-S484; NCT05639751). detail...
SMARCA4 mutant small-cell carcinoma of the ovary of hypercalcemic type sensitive Ponatinib Preclinical - Cell line xenograft Actionable In a preclinical study, Iclusig (ponatinib) treatment of small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) cell lines and xenografts with mutant SMARCA4 resulted in decreased cell viability and tumor volume (PMID: 29440177). 29440177
SMARCA4 mutant lung non-small cell carcinoma predicted - sensitive Tozasertib Preclinical - Cell culture Actionable In a preclinical study, a non-small cell lung cancer cell line harboring a SMARCA4 mutation demonstrated sensitivity to Tozasertib (VX-680) in culture (Cancer Res July 15 2016 (76) (14 Supplement) LB-318). detail...
SMARCA4 mutant esophageal cancer predicted - sensitive PRT3789 Case Reports/Case Series Actionable In a Phase I trial, PRT3789 treatment was well tolerated and resulted in partial responses, tumor shrinkage, and prolonged stable disease in patients with advanced esophageal cancer (N=2) or non-small cell lung cancer (N=18) harboring SMARCA4 mutations (Ann Oncol (2024) 35 (suppl_2): S483-S484; NCT05639751). detail...
SMARCA4 mutant mantle cell lymphoma predicted - resistant Ibrutinib + Venetoclax Phase II Actionable In a Phase II trial (AIM), distinct molecular profiles were identified in mantle cell lymphoma patients responded to Imbruvica (ibrutinib) and Venclexta (venetoclax) combination therapy compared to those did not respond, with all patients harboring mutations in NSD2 (n=4), UBR5 (n=3), KMT2D (n=3), and 12 of 13 patients harboring mutations in ATM responded to the therapy, while SMARCA4 (n=4), CCND1 (n=2), and NOTCH1 (n=3) alterations were exclusively observed in nonresponders (PMID: 30455436; NCT02471391). 30455436