FGFR3 A391E

CI-VAR-00000096Explore in graph →NP_000133.1:p.Ala391GluNM_000142.5:c.1172C>AClinVar 16329 CIViC 4023

Curated evidence

Evidence by cancer (7 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 1–7 of 7 evidence items across 3 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
Malignant Neoplasm2
FGFR3 A391E	(oncogenic)	Oncogenic	D	Supports Oncogenicity	3	submitted	EID12849 The transmembrane domain mutation A391E was tested in a series of assays for an evaluation of oncogenicity. A391E was stably transfected into 3T3 cells along with WT controls. TAS (Transformation Ac… (full text at CIViC) PMID 34272467 · Nakamura et al., 2021 · Open in CIViC	civic
FGFR3 A391E	Erdafitinib	Predictive	D	Supports Sensitivity Response	3	submitted	EID13208 NIH3T3 cells expressing FGFR3 A391E were sensitive to erdafitinib in an in vitro cell proliferation assay. IC50 calculated by comparison to a vehicle control was 5.1nM, which was lower than IC50 recor… (full text at CIViC) PMID 34272467 · Nakamura et al., 2021 · Open in CIViC	civic

ClinVar

Clinical significance (0)

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

Data not yet available

No ClinVar interpretation attached to this variant.

Transitional Cell Carcinoma1
FGFR3 A391E	AZD-4547	Predictive	C	Supports Sensitivity Response	1	submitted	EID8315 The phase II NCI-MATCH trial (EAY131) subprotocol W assessed the FGFR1-3 selective TKI AZD-4547 in 48 patients with FGFR1/2 amplifications, FGFR2/3 SNV or FGFR1/3 fusions. The partial response overall… (full text at CIViC) PMID 32463741 · Chae et al., 2020 · Open in CIViC	civic

Unmapped disease4unmapped disease
FGFR3 A391E	(functional)	Functional	D	Supports Gain Of Function	3	submitted	EID10395 While receptor tyrosine kinases (RTKs) like FGFR3 form both homodimers and heterodimers (often in the same family), heterodimerization of RTKs is considered to be a method of greater receptor activati… (full text at CIViC) PMID 27927983 · Del Piccolo et al., 2017 · Open in CIViC	civic
FGFR3 A391E	(functional)	Functional	D	Supports Gain Of Function	3	submitted	EID10509 Common bladder cancer and Crouzon syndrome with acanthosis nigricans variant FGFR3 A391E dimerization was tested in plasma membrane derived vesicles, and quantified via QI-FRET and Intrinsic FRET. Th… (full text at CIViC) PMID 26244699 · Sarabipour et al., 2015 · Open in CIViC	civic
FGFR3 A391E	(functional)	Functional	D	Supports Gain Of Function	4	accepted	EID10513 FRET was used to compare the structural changes in FGFR dimers when FGF1 and FGF2 bind, and found that FGF2 bound dimers were much closer to each other than FGF1. The authors also looked at FGFR3 phos… (full text at CIViC) PMID 26725515 · Sarabipour et al., 2016 · Open in CIViC	civic
FGFR3 A391E	(functional)	Functional	D	Supports Gain Of Function	3	submitted	EID10654 Crouzon syndrome with acanthosis nigricans mutation FGFR3 A391E activation was tested in the presence of ligand fgf1 via Western blots as well as testing dimerization, phosphorylation and ligand bindi… (full text at CIViC) PMID 23437153 · Chen et al., 2013 · Open in CIViC	civic