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Gene FGFR2
Variant L33S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 L33S lies within Ig-like C2-type domain 1 of the Fgfr2 protein (UniProt.org). L33S results in decreased proliferation in a competition assay but transformation activity similar to wild-type Fgfr2 in cultured cells (PMID: 34272467), and therefore, its effect on Fgfr2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 L33S

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Transcript NM_000141.5
gDNA chr10:g.121593720A>G
cDNA c.98T>C
Protein p.L33S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144918.1 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_001144915.1 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_023029.2 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_001144918.2 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_001144919.1 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_001144915.2 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_001144916.1 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_023029.2 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_001144919.2 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38
NM_001144916.2 chr10:g.121593720A>G c.98T>C p.L33S RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 mutant transitional cell carcinoma predicted - sensitive Cetrelimab + Erdafitinib Phase II Actionable In a Phase II trial, the combination of Balversa (erdafitinib) and Cetrelimab (JNJ-63723283) treatment resulted in an overall response rate of 54.5% (6 complete responses), disease control rate of 79.5%, median duration of response of 11.10 months, median progression-free survival of 10.97 months, and a 12-month overall survival of 68% in patients with metastatic urothelial carcinoma harboring FGFR mutations (J Clin Oncol 41, 2023 (suppl 16; abstr 4504); NCT03473743). detail...
FGFR2 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...
FGFR2 mutant cholangiocarcinoma sensitive Infigratinib Case Reports/Case Series Actionable In a Phase I trial, a patient with cholangiocarcinoma harboring an FGFR2 mutation demonstrated a decreased tumor burden when treated with Truseltiq (infigratinib) (PMID: 27870574). 27870574
FGFR2 mutant Advanced Solid Tumor sensitive Pemigatinib Preclinical - Cell culture 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...
FGFR2 mutant endometrial cancer sensitive Infigratinib Preclinical Actionable In a preclinical study, Truseltiq (infigratinib) inhibited the growth of FGFR2-mutated endometrial cancer cells in vitro and in xenograft models (PMID: 23443805). 23443805
FGFR2 mutant breast cancer no benefit Sunitinib Case Reports/Case Series Actionable In a Phase II trial (TAPUR), Sutent (sunitinib) treatment did not meet the predetermined efficacy criteria in metastatic breast cancer patients with FGFR2 amplification (n=2), FGFR2 mutation (including FGFR2 rearrangement) (n=6), or both (n=2), resulting in no objective responses or stable disease of at least 16 weeks, median progression-free survival of 8 weeks, and a median overall survival of 22 weeks (PMID: 38354330; NCT02693535). 38354330
FGFR2 mutant intrahepatic cholangiocarcinoma predicted - sensitive Derazantinib Phase II Actionable In a Phase II trial (FIDES-01), Derazantinib (ARQ 087) treatment resulted in an objective response rate of 6.5%, a disease control rate of 58.1%, median progression-free survival of 8.3 months, and a median overall survival of 15.9 months in patients with intrahepatic cholangiocarcinoma harboring an FGFR2 mutation or amplification (Ann Oncol (2022) 33 (suppl_7): S19-S26; NCT03230318). detail...
FGFR2 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
FGFR2 mutant cholangiocarcinoma predicted - sensitive Erdafitinib Phase I Actionable In a Phase I trial, Balversa (erdafitinib) treatment resulted in an objective response rate of 27% (3/11) in patients with cholangiocarcinoma harboring FGFR genomic alterations, including 1 with FGFR2 mutation, 2 with FGFR3 mutations, and 8 with FGFR2 fusions (PMID: 31088831; NCT01703481). 31088831
FGFR2 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
FGFR2 mutant endometrial cancer sensitive PRN1371 Preclinical - Cell culture Actionable In a preclinical study, PRN1371 inhibited proliferation of endometrial cancer cells harboring FGFR2 mutations in culture (AACR; Cancer Res 2016;76(14 Suppl):Abstract nr 1249). detail...