Gene Variant Detail

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Gene FGFR3
Variant V555L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 V555L lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V555L has been demonstrated to confer resistance to Fgfr inhibitors in cell culture (PMID: 28034880, PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Dec 2023).
Associated Drug Resistance Y
Category Variants Paths

FGFR3 mutant FGFR3 V555L

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Transcript NM_000142.5
gDNA chr4:g.1805767G>C
cDNA c.1663G>C
Protein p.V555L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011513420 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
NM_001163213 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
NM_000142 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_006713873 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1805767G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
XM_006713871 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1805761G>C c.1663G>C p.V555L RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 S249C FGFR3 V555L transitional cell carcinoma predicted - resistant Erdafitinib Case Reports/Case Series Actionable In a clinical case study, FGFR3 V555L was identified in the post-progression circulating tumor DNA of a patient with urothelial cancer harboring FGFR3 S249C who previously responded to Balversa (erdafitinib) treatment (PMID: 37377403). 37377403
FGFR3 S249C FGFR3 V555L transitional cell carcinoma predicted - resistant Pemigatinib Case Reports/Case Series Actionable In a Phase II trial (FIGHT-201), FGFR3 V555L was identified in post-progression biopsy in a patient with urothelial carcinoma harboring FGFR3 S249C who previously achieved stable disease on Pemazyre (pemigatinib) treatment (PMID: 37956738; NCT02872714). 37956738
FGFR3 Y373C FGFR3 N540K FGFR3 V555L FGFR3 L608V bladder urothelial carcinoma predicted - resistant Futibatinib Case Reports/Case Series Actionable In a clinical case study, FGFR3 N540K, FGFR3 V555L, and FGFR3 L608V were identified in the post-progression circulating tumor DNA of a patient with bladder urothelial carcinoma harboring FGFR3 Y373C who previously responded to Lytgobi (futibatinib) 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