Variant · Snv
FGFR3 M528I
CI-VAR-00002595Explore in graph →NP_000133.1:p.Met528IleNM_000142.5:c.1584G>TClinVar 2175405 CIViC 3515
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.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 41361008
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Neoplasm1 | ||||||||
| FGFR3 M528I | (oncogenic) | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID12878In 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 |
| Hypochondroplasia1unmapped disease | ||||||||
| FGFR3 M528I | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID9706Novel variant found through WES on all affected individuals of a family with short stature. The segregation of the variant was confirmed by sanger sequencing (ACMG: PP1). The affected members presente… (full text at CIViC) PMID 25777271 · | |
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