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Gene SMARCA4
Variant R1135Gfs*5
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCA4 R1135Gfs*5 indicates a shift in the reading frame starting at amino acid 1135 and terminating 5 residues downstream causing a premature truncation of the 1647 amino acid Smarca4 protein (UniProt.org). Due to the loss of Bromo domain (UniProt.org), R1135Gfs*5 is predicted to lead to a loss of Smarca4 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCA4 mutant SMARCA4 inact mut SMARCA4 R1135Gfs*5

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Transcript NM_003072.5
gDNA chr19:g.11030750delC
cDNA c.3403delC
Protein p.R1135Gfs*5
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024451660.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_017027168 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_047439246.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128846 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128844.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_024451664.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_017027165 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_006722846.3 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_017027163 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_024451661.2 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_024451658.2 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001411150.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128845.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_003072 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128848.2 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_024451662.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_011528198.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_003072.5 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128845 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128849 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_024451663.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_006722846 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_024451667.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128847.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_024451665.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_047439251.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_006722845 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128849.3 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_047439249.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_006722846.2 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_047439250.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_024451667.2 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_024451666.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_047439248.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128844.3 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_047439243.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_047439247.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_011528198 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_017027162 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_017027164 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_017027167 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_017027161 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_006722845.2 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128847 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128844 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_011528198.2 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_024451658.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_024451661.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128846.2 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128848 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128845.2 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_024451663.2 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128849.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128847.4 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_003072.3 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001387283.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_047439244.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_017027160 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001374457.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128848.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_017027166 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
XM_024451659.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38
NM_001128846.1 chr19:g.11030750delC c.3403delC p.R1135Gfs*5 RefSeq GRCh38/hg38

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  • 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
SMARCA4 inact mut lung non-small cell carcinoma sensitive MK-5108 Preclinical - Cell culture Actionable In a preclinical study, a non-small cell lung cancer cell line harboring an inactivating mutation in SMARCA4 demonstrated sensitivity to MK-5108 (VX-689) in culture (PMID: 28102363). 28102363
SMARCA4 inact mut melanoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including SMARCA4, did not correlate with improved survival in 2 separate cohorts of patients with melanoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 1.70 (p=0.192, n=86) and 1.02 (p=0.939, n=192), respectively (PMID: 32321774). 32321774
SMARCA4 inact mut lung non-small cell carcinoma sensitive Alisertib Preclinical - Cell culture Actionable In a preclinical study, a non-small cell lung cancer cell line harboring an inactivating mutation in SMARCA4 demonstrated sensitivity to Alisertib (MLN8237) in culture (PMID: 28102363). 28102363
SMARCA4 inact mut transitional cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including SMARCA4, did not correlate with improved survival in 2 separate cohorts of patients with transitional cell carcinoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 1.44 (p=0.34, n=56) and 0.82 (p=0.559, n=93), respectively (PMID: 32321774). 32321774
SMARCA4 inact mut colorectal adenocarcinoma unknown unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including SMARCA4, correlated with improved survival in one cohort of patients with colorectal adenocarcinoma treated with systemic immune checkpoint inhibitors but not the other, with adjusted HRs for overall survival of 0.30 (p=0.03, n=35) and 0.56 (p=0.244, n=63), respectively (PMID: 32321774). 32321774
SMARCA4 inact mut gastroesophageal adenocarcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including SMARCA4, did not correlate with improved survival in 2 separate cohorts of patients with gastroesophageal adenocarcinoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 0.70 (p=0.403, n=66) and 0.46 (p=0.071, n=59), respectively (PMID: 32321774). 32321774
SMARCA4 inact mut lung non-small cell carcinoma sensitive Tozasertib Preclinical - Cell line xenograft Actionable In a preclinical study, non-small cell lung cancer cell lines harboring SMARCA4 inactivating mutations demonstrated sensitivity to Tozasertib (VX-680) in culture and in xenograft models (PMID: 28102363). 28102363
SMARCA4 inact mut lung non-small cell carcinoma sensitive Danusertib Preclinical - Cell culture Actionable In a preclinical study, a non-small cell lung cancer cell line harboring an inactivating mutation in SMARCA4 demonstrated sensitivity to Danusertib (PHA-739358) in culture (PMID: 28102363). 28102363
SMARCA4 inact mut Advanced Solid Tumor no benefit Palbociclib Clinical Study Actionable In a combined analysis of 2 clinical trials (DRUP, MoST), Ibrance (palbociclib) or Kisqali (ribociclib) monotherapy had limited efficacy and resulted in no objective responses, a 15% clinical benefit rate at 16 weeks, median progression-free survival of 4 mo, and median overall survival of 5 mo in previously treated advanced solid tumor patients (n=112) with inactivating SMARCA4 mutations, CDKN2A loss, or CDK4, CDK6, CCND1, CCND2, or CCND3 amplification (PMID: 37424386; NCT02925234, ACTRN12616000931471). 37424386
SMARCA4 inact mut head and neck squamous cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including SMARCA4, did not correlate with improved survival in 2 separate cohorts of patients with head and neck squamous cell carcinoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 0.74 (p=0.631, n=31) and 0.76 (p=0.622, n=68), respectively (PMID: 32321774). 32321774
SMARCA4 inact mut lung non-small cell carcinoma sensitive ENMD-2076 Preclinical - Cell culture Actionable In a preclinical study, a non-small cell lung cancer cell line harboring an inactivating mutation in SMARCA4 demonstrated sensitivity to ENMD-2076 in culture (PMID: 28102363). 28102363
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 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 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
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 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...