Variant · Snv

FGFR1 N546K

CI-VAR-00002916Explore in graph →NP_075598.2:p.Asn546LysNM_023110.2:c.1638C>AClinVar 224896 CIViC 515 rs779707422

Curated evidence

Evidence by cancer (4 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 1–4 of 4 evidence items across 4 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
Bone Ewing Sarcoma1
FGFR1 N546K	Ponatinib	Predictive	E	Supports Sensitivity Response	2	accepted	EID1246 116 Ewing's sarcoma tumor samples were analyzed in this study. 2 patient's samples underwent whole genome sequencing, tumor samples from 51 patients underwent exome sequencing and expression analysis,… (full text at CIViC) PMID 26179511 · Agelopoulos et al., 2015 · Open in CIViC	civic
Malignant Neoplasm1
FGFR1 N546K	(oncogenic)	Oncogenic	D	Supports Oncogenicity	3	submitted	EID11649 FGFR1, FGFR2, FGFR3 and FGFR4 variants found in human cancer were introduced into NIH3T3 cells and assessed for transformation and proliferation in an integrated qualitative assessment of focus format… (full text at CIViC) PMID 34272467 ·

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
224896	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Encephalocraniocutaneous lipomatosis; Rosette-forming glioneuronal tumor; Neoplasm; Dysembryoplastic neuroepithelial tumor; Embryonal rhabdomyosarcoma; Neuroblastoma; Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype; Primary intracranial sarcoma, DICER1-mutant; Diffuse midline glioma, H3 K27M-mutant; FGFR1-related disorder	germline/somatic