Gene Variant Detail

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Gene FGFR1
Variant V751A
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FGFR1 V751A lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). V751A results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function.
Associated Drug Resistance

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Transcript NM_023110.2
gDNA chr8:g.38413958A>G
cDNA c.2252T>C
Protein p.V751A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_023110.2 chr8:g.38413958A>G c.2252T>C p.V751A RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38413958A>G c.2252T>C p.V751A RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38413958A>G c.2252T>C p.V751A RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38413958A>G c.2252T>C p.V751A RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR1 V751A Advanced Solid Tumor predicted - sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 V751A were sensitive to treatment with Futibatinib (TAS-120) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 V751A Advanced Solid Tumor predicted - sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 V751A were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 V751A Advanced Solid Tumor predicted - sensitive E7090 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 V751A were sensitive to treatment with E7090 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 V751A Advanced Solid Tumor predicted - sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 V751A were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 V751A Advanced Solid Tumor predicted - sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 V751A were sensitive to treatment with AZD4547 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR1 V751A Advanced Solid Tumor predicted - sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR1 V751A were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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
Molecular Profile Protein Effect Treatment Approaches
FGFR1 V751A loss of function - predicted