Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | PTEN |
Variant | C136fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN C136fs results in a change in the amino acid sequence of the Pten protein beginning at aa 136 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). C136fs has not been characterized, however, due to the effects of other truncation mutations downstream of C136 (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 C136fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87933164_87933165) |
cDNA | c.(406_405) |
Protein | p.C136fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.(87933164_87933165) | c.(406_405) | p.C136fs | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.(87933164_87933165) | c.(406_405) | p.C136fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR3 S249C FGFR3 amp PTEN C136fs | transitional cell carcinoma | predicted - resistant | Erdafitinib | Case Reports/Case Series | Actionable | In a clinical case study, PTEN C136fs and FGFR3 amplification (6 copies) were identified in the tissue biopsy of a patient with bladder urothelial cancer harboring FGFR3 S249C who progressed on Balversa (erdafitinib) after 1.4 months of treatment (PMID: 37377403). | 37377403 |