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| Gene | FGFR2 |
| Variant | I291_Y308del |
| Impact List | deletion |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR2 I291_Y308del results in the deletion of eighteen amino acids in the Fgfr2 protein from amino acids 291 to 308 (UniProt.org). I291_Y308del has been identified in the scientific literature (Cancer Res (2023) 83 (8_Supplement): CT016), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 exon7 FGFR2 exon 7 del FGFR2 I291_Y308del |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121519994_121520047del54 |
| cDNA | c.871_924del54 |
| Protein | p.I291_Y308del |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000141.4 | chr10:g.121519994_121520047del54 | c.871_924del54 | p.I291_Y308del | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121519994_121520047del54 | c.871_924del54 | p.I291_Y308del | RefSeq | GRCh38/hg38 |
| NM_022970.4 | chr10:g.121519994_121520047del54 | c.871_924del54 | p.I291_Y308del | RefSeq | GRCh38/hg38 |
| NM_001320658.1 | chr10:g.121519994_121520047del54 | c.871_924del54 | p.I291_Y308del | RefSeq | GRCh38/hg38 |
| NM_001320658.2 | chr10:g.121519994_121520047del54 | c.871_924del54 | p.I291_Y308del | RefSeq | GRCh38/hg38 |
| NM_001144917.1 | chr10:g.121519994_121520047del54 | c.871_924del54 | p.I291_Y308del | RefSeq | GRCh38/hg38 |
| NM_001144917.2 | chr10:g.121519994_121520047del54 | c.871_924del54 | p.I291_Y308del | RefSeq | GRCh38/hg38 |
| NM_022970.3 | chr10:g.121519994_121520047del54 | c.871_924del54 | p.I291_Y308del | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121519994_121520047del54 | c.871_924del54 | p.I291_Y308del | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR2 I291_Y308del | cholangiocarcinoma | predicted - sensitive | Pemigatinib | Case Reports/Case Series | Actionable | In a Phase II trial (FIGHT-207), Pemazyre (pemigatinib) treatment demonstrated safety in previously treated patients with advanced solid tumors harboring an activating non-kinase domain mutation in FGFR1, FGFR2, or FGFR3, and resulted in an objective response rate of 9.4% (3/32, partial responses), including a partial response with a progression-free survival of 14.8 months in a patient with cholangiocarcinoma harboring FGFR2 I291_Y308del (PMID: 38710951; NCT03822117). | 38710951 |