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Gene ARID2
Variant S1157*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID2 S1157* results in a premature truncation of the Arid2 protein at amino acid 1157 of 1835 (UniProt.org). Due to the loss of the C2H2-type zinc finger domain (PMID: 32071245), S1157* is predicted to lead to a loss of Arid2 protein function.
Associated Drug Resistance
Category Variants Paths

ARID2 mutant ARID2 inact mut ARID2 S1157*

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Transcript NM_152641.4
gDNA chr12:g.45851593C>A
cDNA c.3470C>A
Protein p.S1157*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_152641.4 chr12:g.45851593C>A c.3470C>A p.S1157* RefSeq GRCh38/hg38
XM_047428489.1 chr12:g.45851593C>A c.3470C>A p.S1157* RefSeq GRCh38/hg38
NM_152641.3 chr12:g.45851593C>A c.3470C>A p.S1157* RefSeq GRCh38/hg38
NM_001347839.2 chr12:g.45851593C>A c.3470C>A p.S1157* RefSeq GRCh38/hg38
NM_001347839.1 chr12:g.45851593C>A c.3470C>A p.S1157* RefSeq GRCh38/hg38
XM_006719272.4 chr12:g.45851593C>A c.3470C>A p.S1157* RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ARID2 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 ARID2, 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
ARID2 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 ARID2, 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
ARID2 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 ARID2, 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
ARID2 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 ARID2, 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
ARID2 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 ARID2, 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