Variant · Snv

FGFR3 S249C

CI-VAR-00004036Explore in graph →NP_000133.1:p.Ser249CysNM_000142.4:c.746C>GClinVar 16339 CIViC 628 rs121913483

Curated evidence

Evidence by cancer (26 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–26 of 26 evidence items across 11 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Bladder Carcinoma3
FGFR3 S249C	(oncogenic)	Oncogenic	D	Supports Oncogenicity	4	submitted	EID10386 FGFR3 S249C promoted FGF1 and IL-3 independent cell proliferation when transduced into Ba/F3 cells, whereas Ba/F3 cells with wildtype FGFR3 were IL-3 independent, but FGF1 dependent. R3Mab (monclonal … (full text at CIViC) PMID 19381019 · Qing et al., 2009 · Open in CIViC	civic
FGFR3 S249C	R3Mab	Predictive	D	Does Not Support Resistance	3	rejected	EID9088 In a preclinical experiment, R3Mab (a monoclonal antibody specific to FGFR3) was tested against Ba/F3 and bladder carcinoma cell lines expressing FGFR3 wildtype and FGFR3 variants prevalent in bladder… (full text at CIViC) PMID 19381019 · Qing et al., 2009 · Open in CIViC	civic

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
16339	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Seborrheic keratosis; Thanatophoric dysplasia type 1; Cervical cancer; Malignant tumor of urinary bladder; Squamous cell lung carcinoma; Connective tissue disorder; Malignant neoplastic disease; Achondroplasia; FGFR3-related disorder; Thanatophoric dysplasia, type 2; FGFR3-related chondrodysplasia; Neoplasm	germline/somatic

Bladder Urothelial Carcinoma3
FGFR3 S249C	(diagnostic)	Diagnostic	D	Supports Positive	3	submitted	EID8668 Activating FGFR3 mutations are found more frequently in lower grade / early stage urothelial carcinoma. FGFR mutations are also associated with high FGFR3 expression. FGFR3 expression therefore demons… (full text at CIViC) PMID 16532037 · Lindgren et al., 2006 · Open in CIViC	civic
FGFR3 S249C	(oncogenic)	Oncogenic	D	Supports Oncogenicity	4	accepted	EID8853 In contrast to controls (empty vector and FGFR3 wild-type overexpression NIH-3T3 cell lines), the stable transfection of NIH-3T3 cells with FGFR3b-S249C led to ligand-independent phosphorylation of FG… (full text at CIViC) PMID 16338952 · Bernard-Pierrot et al., 2006 · Open in CIViC	civic
FGFR3 S249C	Erdafitinib	Predictive	C	Supports Sensitivity Response	2	submitted	EID12955 This report describes a patient with metastatic urothelial bladder cancer harboring an FGFR3 S249C mutation who developed disease progression after platinum-based chemotherapy and avelumab maintenance… (full text at CIViC) PMID 37343207 · Castro-Alonso et al., 2023 · Open in CIViC	civic

Bladder Urothelial Carcinoma3

FGFR3 S249C

(diagnostic)

Diagnostic

Supports Positive

submitted

EID8668

Activating FGFR3 mutations are found more frequently in lower grade / early stage urothelial carcinoma. FGFR mutations are also associated with high FGFR3 expression. FGFR3 expression therefore demons… (full text at CIViC)

PMID 16532037 · Lindgren et al., 2006 · Open in CIViC

Unmapped disease2unmapped disease
FGFR3 S249C	(functional)	Functional	D	Supports Gain Of Function	3	accepted	EID8854 Forster Resonance Energy Transfer (FRET)-based technique acquired quantitative measurement of the effect of S249C on unliganded mutant FGFR3 dimer stability and structure in plasma membrane vesicles f… (full text at CIViC) PMID 25606676 · Del Piccolo et al., 2015 · Open in CIViC	civic
FGFR3 S249C	(functional)	Functional	D	Does Not Support Gain Of Function	2	submitted	EID10512 Common bladder cancer and thanatophoric dysplasia type I variant FGFR3 S249C dimerization was tested in the absence of ligand via QI-FRET to determine if constitutive dimerization was leading to recep… (full text at CIViC) PMID 26244699 · Sarabipour et al., 2015 · Open in CIViC	civic