Gene Variant Detail

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Gene FGFR3
Variant G370C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 G370C lies within the juxtamembrane region of the Fgfr3 protein (PMID: 12009017). G370C confers a gain of function to the Fgfr3 protein as demonstrated by increased Fgfr3 phosphorylation, constitutive activation of the Mapk signaling pathway (PMID: 12009017), a growth advantage relative to wild-type Fgfr3 in a competition assay, and increased transformation activity in cultured cells (PMID: 34272467).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 G370C

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Transcript NM_000142.4
gDNA chr4:g.1804362G>T
cDNA c.1108G>T
Protein p.G370C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011513422 chr4:g.1804362G>T c.1108G>T p.G370C RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1804362G>T c.1108G>T p.G370C RefSeq GRCh38/hg38
XM_006713873 chr4:g.1804362G>T c.1108G>T p.G370C RefSeq GRCh38/hg38
NM_000142 chr4:g.1804362G>T c.1108G>T p.G370C RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1804362G>T c.1108G>T p.G370C RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1804362G>T c.1108G>T p.G370C RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1804362G>T c.1108G>T p.G370C RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1804362G>T c.1108G>T p.G370C RefSeq GRCh38/hg38
XM_011513420 chr4:g.1804362G>T c.1108G>T p.G370C RefSeq GRCh38/hg38
XM_006713872 chr4:g.1804362G>T c.1108G>T p.G370C RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1804362G>T c.1108G>T p.G370C RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 G370C transitional cell carcinoma sensitive Erdafitinib FDA approved - On Companion Diagnostic Actionable In a Phase II trial (BCL2001) that supported FDA approval, Balversa (erdafitinib) treatment resulted in an objective response rate of 40% (40/99, 3 complete response, 37 partial response) and a disease control rate of 80% in patients with metastatic or unresectable urothelial carcinoma harboring FGFR alterations and FGFR3 G370C is included in the companion diagnostic (PMID: 31340094; NCT02365597). detail... 31340094 detail...
FGFR3 G370C bladder urothelial carcinoma sensitive Erdafitinib FDA approved - On Companion Diagnostic Actionable In a Phase II trial (BCL2001) that supported FDA approval, Balversa (erdafitinib) treatment resulted in an objective response rate of 40% (40/99, 3 complete response, 37 partial response) and a disease control rate of 80% in patients with metastatic or unresectable urothelial carcinoma harboring FGFR alterations and FGFR3 G370C is included in the companion diagnostic (PMID: 31340094; NCT02365597). detail... 31340094 detail...
FGFR3 G370C Advanced Solid Tumor predicted - resistant Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 G370C were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467
FGFR3 G370C Advanced Solid Tumor predicted - resistant E7090 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 G370C were resistant to treatment with E7090 in culture (PMID: 34272467). 34272467
FGFR3 G370C Advanced Solid Tumor predicted - sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 G370C were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467