Gene Variant Detail

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Gene FGFR2
Variant W290C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 W290C lies within the Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). W290C does not result in increased Fgfr2 phosphorylation, but increases both ligand-dependent and ligand-independent dimerization of Fgfr2 (PMID: 23786770), results in a growth advantage relative to wild-type Fgfr2 in a competition assay (PMID: 34272467), is transforming in cell culture (PMID: 23786770, PMID: 34272467), and promotes tumor formation in xenograft models (PMID: 23786770).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 W290C

FGFR2 mutant FGFR2 exon7 FGFR2 W290C

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Transcript NM_000141.5
gDNA chr10:g.121520048C>A
cDNA c.870G>T
Protein p.W290C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144917.2 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_022970 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001320658 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_000141 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001144917 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001144913 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 W290C Advanced Solid Tumor sensitive Infigratinib Preclinical - Cell line xenograft Actionable In a preclinical study, Truseltiq (infigratinib) inhibited growth of transformed cells expressing FGFR2 W290C in culture and inhibited tumor growth in xenograft models (PMID: 23786770). 23786770
FGFR2 W290C Advanced Solid Tumor sensitive Ponatinib Preclinical - Cell culture Actionable In a preclinical study, Iclusig (ponatinib) inhibited growth of transformed cells expressing FGFR2 W290C in culture (PMID: 23786770). 23786770
FGFR2 W290C Advanced Solid Tumor sensitive Pazopanib Preclinical - Cell culture Actionable In a preclinical study, Votrient (pazopanib) inhibited growth of transformed cells expressing FGFR2 W290C in culture (PMID: 23786770). 23786770
FGFR2 W290C Advanced Solid Tumor sensitive Cediranib Preclinical - Cell culture Actionable In a preclinical study, Cediranib (AZD-2171) inhibited growth of transformed cells expressing FGFR2 W290C in culture (PMID: 23786770). 23786770
FGFR2 W290C Advanced Solid Tumor sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, AZD4547 inhibited growth of transformed cells expressing FGFR2 W290C in culture (PMID: 23786770). 23786770
FGFR2 W290C Advanced Solid Tumor sensitive Lenvatinib Preclinical - Cell culture Actionable In a preclinical study, Lenvima (lenvatinib) inhibited growth of transformed cells expressing FGFR2 W290C in culture (PMID: 23786770). 23786770
FGFR2 W290C Advanced Solid Tumor predicted - sensitive E7090 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 W290C were sensitive to treatment with E7090 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 W290C Advanced Solid Tumor predicted - sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 W290C were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 W290C Advanced Solid Tumor predicted - sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 W290C were sensitive to treatment with Lytgobi (futibatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 W290C Advanced Solid Tumor predicted - sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 W290C were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 W290C Advanced Solid Tumor predicted - resistant Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 W290C were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467
FGFR2 W290C intrahepatic cholangiocarcinoma predicted - sensitive Futibatinib Case Reports/Case Series Actionable In a Phase I trial, Lytgobi (futibatinib) treatment at a dose of 20mg led to an objective response rate of 15.6% (10/64) and a median progression-free survival of 5.1 months in patients with cholangiocarcinoma harboring FGF or FGFR 1-4 alterations, including a partial response with a progression-free survival of 12.7 months and a duration of response of 9.9 months in an intrahepatic cholantiocarcinoma patient harboring FGFR2 W290C (PMID: 34551969; NCT02052778). 34551969