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Gene | FGFR2 |
Variant | H683L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 H683L (corresponds to H682L in the canonical isoform) lies within the protein kinase domain of the FGFR2 protein (UniProt.org). H683L has been associated with resistance to Fgfr inhibitors in the context of an FGFR2 fusion in culture (PMID: 31109923), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Oct 2023). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 H683L |
Transcript | NM_001144913.1 |
gDNA | chr10:g.121487366T>A |
cDNA | c.2048A>T |
Protein | p.H683L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144913 | chr10:g.121487366T>A | c.2048A>T | p.H683L | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121487366T>A | c.2048A>T | p.H683L | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121487366T>A | c.2048A>T | p.H683L | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121487366T>A | c.2048A>T | p.H683L | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121487366T>A | c.2048A>T | p.H683L | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121487366T>A | c.2048A>T | p.H683L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 fusion FGFR2 H683L | intrahepatic cholangiocarcinoma | decreased response | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Truseltiq (infigratinib) treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 H683L had weakened sensitivity, as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). | 31109923 |
FGFR2 fusion FGFR2 H683L | intrahepatic cholangiocarcinoma | decreased response | Debio 1347 | Preclinical - Cell culture | Actionable | In a preclinical study, Debio 1347 treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 H683L had weakened sensitivity, as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). | 31109923 |
FGFR2 fusion FGFR2 H683L | intrahepatic cholangiocarcinoma | sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Lytgobi (futibatinib) treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 H683L were sensitive to treatment as demonstrated by decreased cell viability and decreased activation of downstream signaling (PMID: 31109923). | 31109923 |