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Gene SMARCB1
Variant T72Qfs*13
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions SMARCB1 T72Qfs*13 indicates a shift in the reading frame starting at amino acid 72 and terminating 13 residues downstream causing a premature truncation of the 385 amino acid Smarcb1 protein (UniProt.org). Due to the loss of the MYC-binding and tandem repeat regions (UniProt.org), T72Qfs*13 is predicted to lead to a loss of Smarcb1 protein function.
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 inact mut SMARCB1 T72Qfs*13

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Transcript NM_003073.5
gDNA chr22:g.23791876delA
cDNA c.214delA
Protein p.T72Qfs*13
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_003073 chr22:g.23791876delA c.214delA p.T72Qfs*13 RefSeq GRCh38/hg38
NM_001362877.2 chr22:g.23791876delA c.214delA p.T72Qfs*13 RefSeq GRCh38/hg38
XM_011530345.2 chr22:g.23791876delA c.214delA p.T72Qfs*13 RefSeq GRCh38/hg38
XM_011530345 chr22:g.23791876delA c.214delA p.T72Qfs*13 RefSeq GRCh38/hg38
NM_003073.5 chr22:g.23791876delA c.214delA p.T72Qfs*13 RefSeq GRCh38/hg38
NM_003073.4 chr22:g.23791876delA c.214delA p.T72Qfs*13 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
SMARCB1 inact mut epithelioid sarcoma not applicable N/A Guideline Diagnostic SMARCB1 inactivating mutations aid the diagnosis of epithelioid sarcoma (NCCN.org). detail...
SMARCB1 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 SMARCB1, 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
SMARCB1 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 SMARCB1, 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
SMARCB1 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 ARID1A, 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
SMARCB1 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 SMARCB1, 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
SMARCB1 inact mut rhabdoid cancer not applicable N/A Guideline Diagnostic SMARCB1 inactivating mutations aid the diagnosis of extrarenal rhabdoid tumor (NCCN.org). detail...
SMARCB1 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 SMARCB1, 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