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Gene | PTEN |
Variant | T319fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN T319fs results in a change in the amino acid sequence of the Pten protein beginning at aa 319 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). T319fs has not been characterized, however, due to the effects of other truncation mutations downstream of T319 (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 T319fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87961046_87961047) |
cDNA | c.(955_954) |
Protein | p.T319fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.(87961046_87961047) | c.(955_954) | p.T319fs | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87961046_87961047) | c.(955_954) | p.T319fs | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87961046_87961047insTA | c.954_955insTA | p.T319fs*1 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PTEN T319fs | breast cancer | sensitive | BAY1125976 | Preclinical - Cell culture | Actionable | In a preclinical study, BAY1125976 inhibited proliferation of a breast cancer cell line harboring PTEN T319fs*1 in culture (PMID: 27699769). | 27699769 |