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| Gene | ARID1A |
| Variant | Q909* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | ARID1A Q909* results in a premature truncation of the Arid1a protein at amino acid 909 of 2285 (UniProt.org). Q909* has not been characterized, however, due to the effects of other truncation mutations downstream of Q909 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A Q909* |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.26763278C>T |
| cDNA | c.2725C>T |
| Protein | p.Q909* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006015.6 | chr1:g.26763278C>T | c.2725C>T | p.Q909* | RefSeq | GRCh38/hg38 |
| NM_139135.4 | chr1:g.26763278C>T | c.2725C>T | p.Q909* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ARID1A Q909* | skin melanoma | predicted - sensitive | Niraparib | Case Reports/Case Series | Actionable | In a Phase II clinical trial, Zejula (niraparib) therapy demonstrated activity in melanoma patients harboring mutations in HRR pathway genes, resulting in a partial response (PR) rate of 14% (2/14) and disease control rate (DCR) of 64% (9/14), with stable disease in 7 patients and a median progression-free survival of 16 weeks; response rate was 20% (2/10, 2 PR) and DCR was 70% (7/10) in patients with non-uveal melanoma, including a PR in a cutaneous melanoma patient harboring ARID1A Q909* (PMID: 40373259). | 40373259 |