Gene Variant Detail

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Gene FGFR1
Variant V273M
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions FGFR1 V273M lies within the extracellular domain of the Fgfr1 protein (UniProt.org). V273M 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

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Transcript NM_023110.2
gDNA chr8:g.38424628C>T
cDNA c.817G>A
Protein p.V273M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001174063.1 chr8:g.38424628C>T c.817G>A p.V273M RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38424628C>T c.817G>A p.V273M RefSeq GRCh38/hg38
XM_011544450 chr8:g.38421885_38421887delGACinsCAT c.817_819delGTCinsATG p.V273M RefSeq GRCh38/hg38
XM_011544449 chr8:g.38421885_38421887delGACinsCAT c.817_819delGTCinsATG p.V273M RefSeq GRCh38/hg38
XM_006716304 chr8:g.38424628C>T c.817G>A p.V273M RefSeq GRCh38/hg38
XM_011544450.2 chr8:g.38421885_38421887delGTCinsATG c.817_819delGTCinsATG p.V273M RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38424628C>T c.817G>A p.V273M RefSeq GRCh38/hg38
XM_017013222 chr8:g.38424628C>T c.817G>A p.V273M RefSeq GRCh38/hg38
NM_023110 chr8:g.38424628C>T c.817G>A p.V273M RefSeq GRCh38/hg38
XM_006716303 chr8:g.38424628C>T c.817G>A p.V273M RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38424628C>T c.817G>A p.V273M RefSeq GRCh38/hg38
XM_017013227 chr8:g.38421885_38421887delGACinsCAT c.817_819delGTCinsATG p.V273M RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38424628C>T c.817G>A p.V273M RefSeq GRCh38/hg38
XM_011544449.1 chr8:g.38421885_38421887delGTCinsATG c.817_819delGTCinsATG p.V273M RefSeq GRCh38/hg38
NM_001174063 chr8:g.38424628C>T c.817G>A p.V273M RefSeq GRCh38/hg38
XM_017013227.1 chr8:g.38421885_38421887delGTCinsATG c.817_819delGTCinsATG p.V273M RefSeq GRCh38/hg38
XM_017013221 chr8:g.38424628C>T c.817G>A p.V273M RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38424628C>T c.817G>A p.V273M RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 Debio 1347 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
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...
Molecular Profile Protein Effect Treatment Approaches
FGFR1 V273M no effect - predicted