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Gene | FGFR3 |
Variant | V553M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 V553M lies within the protein kinase domain (UniProt.org). V553M has been associated with FGFR inhibitor resistance (PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jan 2025). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR3 mutant FGFR3 V553M |
Transcript | NM_000142.5 |
gDNA | chr4:g.1805761G>A |
cDNA | c.1657G>A |
Protein | p.V553M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713873.2 | chr4:g.1805761G>A | c.1657G>A | p.V553M | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1805761G>A | c.1657G>A | p.V553M | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1805761G>A | c.1657G>A | p.V553M | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1805761G>A | c.1657G>A | p.V553M | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1805761G>A | c.1657G>A | p.V553M | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1805761G>A | c.1657G>A | p.V553M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR3 S249C FGFR3 V553M | bladder urothelial carcinoma | predicted - resistant | Erdafitinib | Case Reports/Case Series | Actionable | In a clinical case study, FGFR3 V553M was identified in the post-progression circulating tumor DNA of a patient with bladder urothelial cancer harboring FGFR3 S249C who previously responded to Balversa (erdafitinib) treatment (PMID: 37377403). | 37377403 |
FGFR3 S249C FGFR3 V553M FGFR3 V555L | transitional cell carcinoma | predicted - resistant | Pemigatinib | Case Reports/Case Series | Actionable | In a Phase II trial (FIGHT-201), FGFR3 V553M and V555L were identified in post-progression biopsy in a patient with urothelial carcinoma harboring FGFR3 S249C who previously achieved a partial response on Pemazyre (pemigatinib) treatment (PMID: 37956738; NCT02872714). | 37956738 |
FGFR3 S249C FGFR3 M528I FGFR3 V553M | transitional cell carcinoma | predicted - resistant | Pemigatinib | Case Reports/Case Series | Actionable | In a Phase II trial (FIGHT-201), FGFR3 V553M and M528I were identified in post-progression biopsy in a patient with urothelial carcinoma harboring FGFR3 S249C who previously achieved a partial response on Pemazyre (pemigatinib) treatment (PMID: 37956738; NCT02872714). | 37956738 |
FGFR2 R255W FGFR3 S249C FGFR3 V553M FGFR3 K650M | transitional cell carcinoma | predicted - resistant | Erdafitinib | Case Reports/Case Series | Actionable | In a clinical case study, FGFR3 V553M, FGFR3 K650M, and FGFR2 R255W, along with AKT1 E17K, was identified on post-progression biopsy in a patient with urothelial carcinoma harboring FGFR3 S249C who previously responded to Balversa (erdafitinib) (PMID: 37682528). | 37682528 |