Gene Variant Detail

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Gene FGFR1
Variant Y372C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR1 Y372C (corresponds to Y374C in the canonical isoform) lies within the extracellular domain of the Fgfr1 protein (UniProt.org). Y372C results in increased basal and ligand induced Fgfr1 activity in a luciferace assay (PMID: 15625620), and therefore, is predicted to lead to a gain of Fgfr1 protein function.
Associated Drug Resistance

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Transcript NM_015850
gDNA chr8:g.38419696T>C
cDNA c.1115A>G
Protein p.Y372C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011544446.2 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544443 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001174065.1 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544445.2 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544443.2 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_017013224.2 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_023106 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_015850.3 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001174065 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_024447097.1 chr8:g.38419678T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_017013225.2 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716313 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001354370.1 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716306 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716314 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_017013224 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001174064.1 chr8:g.38419678T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001174064 chr8:g.38419678T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716309 chr8:g.38419678T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001354367.1 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716307.1 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_015850 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_017013225 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544447.2 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_017013223 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_001354369.1 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716314.2 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_006716307 chr8:g.38419696T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
NM_023106.2 chr8:g.38418270T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544447 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544446 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38
XM_011544445 chr8:g.38421862T>C c.1115A>G p.Y372C RefSeq GRCh38/hg38

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  • 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
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR1 act mut Advanced Solid Tumor decreased response Nintedanib Preclinical Actionable In a preclinical study, transformed cells expressing constitutively active FGFR1 demonstrated reduced sensitivity to Ofev (Nintedanib) in culture, when compared to other tyrosine kinase inhibitors (PMID: 22238366). 22238366
FGFR1 act mut Advanced Solid Tumor predicted - sensitive Erdafitinib Phase I Actionable In a Phase I trial, Balversa (erdafitinib) treatment resulted in stable disease in 70% (16/23) and partial response in 22% (5/23) of patients with advanced solid tumors harboring FGFR 1-4 activating mutations (including amplifications, mutations and translocations), while no antitumor activity was observed in patients with unknown or no known changes in FGFR (PMID: 26324363; NCT01703481). 26324363
FGFR1 act mut Advanced Solid Tumor no benefit Brivanib Preclinical Actionable In a preclinical study, Brivanib (BMS-540215) did not inhibit receptor phosphorylation and cell proliferation in transformed cells expressing constitutively active FGFR1 in culture (PMID: 22238366). 22238366
FGFR1 act mut breast cancer sensitive FIIN-1 Preclinical Actionable In a preclinical study, FIIN-1 inhibited Fgfr1 activation-induced proliferation and transformation of human breast epithelial cell lines in culture (PMID: 20338520). 20338520
FGFR1 act mut Advanced Solid Tumor decreased response Cediranib Preclinical Actionable In a preclinical study, transformed cells expressing constitutively active FGFR1 demonstrated reduced sensitivity to inhibition of receptor phosphorylation and cell proliferation by Cediranib (AZD-2171) in culture, when compared to other tyrosine kinase inhibitors (PMID: 22238366). 22238366
FGFR1 act mut Advanced Solid Tumor sensitive Debio 1347 Phase I Actionable In a Phase I trial, Debio 1347 (CH5183284) dosing regimen has been determined in solid tumor patients with activating FGFR1 alterations (JCO, Vol 33, No 15_suppl (May 20 Supplement), 2015: 2540). detail...
FGFR1 act mut Advanced Solid Tumor sensitive Dovitinib Preclinical Actionable In a preclinical study, Dovitinib (TKI258) inhibited receptor phosphorylation and cell proliferation in transformed cells expressing constitutively active FGFR1 in culture (PMID: 22238366). 22238366
FGFR1 act mut Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited receptor phosphorylation and cell growth in transformed cells expressing constitutively active FGFR1 in culture (PMID: 22238366). 22238366
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 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 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 Y372C gain of function - predicted FGFR Inhibitor (Pan) FGFR1 Inhibitor