Gene Variant Detail

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Gene FGFR1
Variant R209H
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions FGFR1 R209H lies within Ig-like C2-type domain 2 of the Fgfr1 protein (UniProt.org). R209H has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 R209H

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Transcript NM_023110.3
gDNA chr8:g.38426241C>T
cDNA c.626G>A
Protein p.R209H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047421570.1 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
XM_017013221 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
XM_006716304 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
XM_017013222 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
NM_001174063 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
NM_023110 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
XM_006716303 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38426241C>T c.626G>A p.R209H RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR1 mutant Advanced Solid Tumor sensitive Pemigatinib Preclinical - Cell line xenograft Actionable In a preclinical study, a variety of cancer cell lines harboring mutations in FGFR1, FGFR2, and/or FGFR3 demonstrated sensitivity to Pemazyre (pemigatinib) in culture and in cell line xenograft models, resulting in inhibition of tumor growth (Cancer Res 2015;75(15 Suppl):Abstract nr 771). detail...
FGFR1 mutant Advanced Solid Tumor predicted - sensitive Erdafitinib Case Reports/Case Series Actionable In a Phase II trial (MATCH), Balversa (erdafitinib) treatment resulted in an objective response rate of 16% (4/25), median progression-free survival of 3.6 months, and median overall survival of 11.0 months in patients with advanced solid tumors harboring FGFR1, FGFR2, or FGFR3 mutations or fusions (PMID: 38603650; NCT02465060). 38603650
FGFR1 mutant Advanced Solid Tumor predicted - sensitive ICP-192 Phase I Actionable In a Phase I trial, ICP-192 (gunagratinib) was well-tolerated, and resulted in an overall response rate or 33.3% (4/12, 1 complete response, 3 partial response) and a disease control rate of 91.7% (11/12) in patients with advanced solid tumors harboring FGF/FGFR gene aberrations (J Clin Oncol 39, 2021 (suppl 15; abstr 4092); NCT03758664). detail...
FGFR1 mutant transitional cell carcinoma predicted - sensitive Erdafitinib Phase II Actionable In a Phase II trial, Balversa (erdafitinib) treatment resulted in an objective response rate of 42% (40/96, 3 complete response, 37 partial response) and a disease control rate of 80% in patients with metastatic or unresectable urothelial carcinoma harboring FGFR alterations (J Clin Oncol 36, 2018 (suppl; abstr 4503); NCT02365597). detail...
FGFR1 mutant Advanced Solid Tumor predicted - sensitive Zoligratinib Phase I Actionable In a Phase I trial, Debio 1347 treatment resulted in partial response in 10.5% (6/57) and stable disease in 28.1% (16/57) of patients with advanced solid tumors harboring genomic alterations of FGFR1/2/3, including amplifications, fusions, and mutations (PMID: 30745300; NCT01948297). 30745300