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Gene | PTEN |
Variant | N329fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN N329fs results in a change in the amino acid sequence of the Pten protein beginning at aa 329 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). N329fs has not been characterized, however, due to the effects of other truncation mutations downstream of N329 (PMID: 10468583), is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN N329fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87961076_87961077) |
cDNA | c.(985_984) |
Protein | p.N329fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87961079_87961082delTAAA | c.987_990delTAAA | p.N329fs*14 | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87961076_87961077) | c.(985_984) | p.N329fs | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.(87961076_87961077) | c.(985_984) | p.N329fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF V600E PTEN N329fs | lung adenocarcinoma | predicted - resistant | Dabrafenib | Case Reports/Case Series | Actionable | In a clinical case study, PTEN N329fs was identified on the post-progression biopsy in a patient with metastatic lung adenocarcinoma harboring BRAF V600E, who previously responded to Tafinlar (dabrafenib) (PMID: 32388065). | 32388065 |