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| Gene | FGFR2 |
| Variant | L776Rfs*6 |
| Impact List | frameshift |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR2 L776Rfs*6 indicates a shift in the reading frame starting at amino acid 776 and terminating six residues downstream causing a premature truncation of the 821 amino acid Fgfr2 protein (UniProt.org). L776Rfs*6 is predicted to lead to a gain of Fgfr2 protein function as a corresponding mouse variant (L681Rfs*6) promotes colony formation in cell culture and leads to tumor formation in a mouse model (PMID: 35948633). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 L776Rfs*6 |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121479998_121479999delAG |
| cDNA | c.2327_2328delTC |
| Protein | p.L776Rfs*6 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000141.4 | chr10:g.121479998_121479999delAG | c.2327_2328delTC | p.L776Rfs*6 | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121479998_121479999delAG | c.2327_2328delTC | p.L776Rfs*6 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FGFR2 L776Rfs*6 | breast cancer | predicted - sensitive | Fexagratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Fexagratinib (AZD4547) inhibited growth of mouse mammary epithelial cells expressing FGFR2 L681Rfs*6 (corresponding to L776Rfs*6 in human) in culture (PMID: 35948633). | 35948633 |
| FGFR2 L776Rfs*6 | breast cancer | predicted - sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Pemazyre (pemigatinib) inhibited growth of mouse mammary epithelial cells expressing FGFR2 L681Rfs*6 (corresponding to L776Rfs*6 in human) in culture (PMID: 35948633). | 35948633 |