FGFR3 K650Q

CI-VAR-00002161Explore in graph →NP_000133.1:p.Lys650GlnNM_000142.5:c.1948A>CClinVar 16348 CIViC 4019 rs78311289

Curated evidence

Evidence by cancer (3 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 1–3 of 3 evidence items across 2 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 Neoplasm1
FGFR3 K650Q	(oncogenic)	Oncogenic	D	Supports Oncogenicity	1	submitted	EID12888 In a saturation mutagenesis study, all possible point mutations in the FGFR 1-4 kinase domain (amino acids 472-807 for FGFR3) were tested. Lentiviral plasmids were infected at MOI < 0.3 into the growt… (full text at CIViC) PMID 41361008 · Tangermann et al., 2025 · Open in CIViC	civic
Unmapped disease2unmapped disease
FGFR3 K650Q	(functional)	Functional	D	Supports Gain Of Function	2	accepted	EID10378 A patient suffering from skeletal dysplasia was found to harbor a novel heterozygous K650Q variant in FGFR3. NIH3T3 cells were transfected with the variant construct followed by kinase activity assay … (full text at CIViC) PMID 11055896 ·

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
16348	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Hypochondroplasia; Malignant tumor of urinary bladder; FGFR3-related chondrodysplasia	germline/somatic	9	Jun 23, 2026	clinvar