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Gene FGFR3
Variant R248C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 R248C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). R248C confers a gain of function to the Fgfr3 protein as demonstrated by constitutive ligand-independent cell proliferation (PMID: 19381019) and increased activation of the Mapk signaling pathway (PMID: 24626198).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 R248C

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Transcript NM_000142.5
gDNA chr4:g.1801837C>T
cDNA c.742C>T
Protein p.R248C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000142 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_001163213 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713869.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_022965.3 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713871 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_011513420 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713872 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_011513422 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713868 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713873 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713870 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713869 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_047449820.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713869.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_022965 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713868.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_022965.4 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 R248C Advanced Solid Tumor sensitive Vofatamab Preclinical - Cell culture Actionable In a preclinical study, Vofatamab (B-701) inhibited ligand-independent proliferation induced by FGFR3 R248C in cultured cells (PMID: 19381019). 19381019
FGFR3 R248C Advanced Solid Tumor sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) inhibited growth of transformed cells expressing FGFR3 R248C in culture (PMID: 23786770). 23786770
FGFR3 R248C Advanced Solid Tumor conflicting Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 R248C were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467
FGFR3 R248C Advanced Solid Tumor conflicting Dovitinib Preclinical - Cell culture Actionable In a preclinical study, Dovitinib (TKI258) inhibited growth of transformed cells expressing FGFR3 R248C in culture (PMID: 23786770). 23786770
FGFR3 R248C Advanced Solid Tumor sensitive Pazopanib Preclinical - Cell culture Actionable In a preclinical study, Votrient (pazopanib) inhibited growth of transformed cells expressing FGFR3 R248C in culture (PMID: 23786770). 23786770
FGFR3 R248C transitional cell carcinoma sensitive Erdafitinib FDA approved - On Companion Diagnostic Actionable In a Phase II trial (BCL2001) that supported FDA approval, Balversa (erdafitinib) treatment resulted in an objective response rate of 40% (40/99, 3 complete response, 37 partial response) and a disease control rate of 80% in patients with metastatic or unresectable urothelial carcinoma harboring FGFR alterations and FGFR3 R248C is included in the companion diagnostic (PMID: 31340094; NCT02365597). 31340094 detail... detail...
FGFR3 R248C bladder urothelial carcinoma sensitive Erdafitinib FDA approved - On Companion Diagnostic Actionable In a Phase II trial (BCL2001) that supported FDA approval, Balversa (erdafitinib) treatment resulted in an objective response rate of 40% (40/99, 3 complete response, 37 partial response) and a disease control rate of 80% in patients with metastatic or unresectable urothelial carcinoma harboring FGFR alterations and FGFR3 R248C is included in the companion diagnostic (PMID: 31340094; NCT02365597). detail... 31340094 detail...
FGFR3 R248C transitional cell carcinoma sensitive Dasatinib + PD173074 Preclinical - Cell culture Actionable In a preclinical study, the addition of Sprycel (dasatinib) to treatment with PD173074 enhanced inhibition of colony formation of a urothelial cancer cell line harboring FGFR3 R248C in culture (PMID: 32370101). 32370101
FGFR3 R248C transitional cell carcinoma sensitive Dasatinib + Infigratinib Preclinical - Cell culture Actionable In a preclinical study, the addition of Sprycel (dasatinib) to treatment with Truseltiq (infigratinib) enhanced inhibition of colony formation and synergistically decreased viability in a urothelial cancer cell line harboring FGFR3 R248C in culture (PMID: 32370101). 32370101
FGFR3 R248C breast cancer predicted - sensitive Erdafitinib Case Reports/Case Series Actionable In a Phase II trial (RAGNAR), treatment with Balversa (erdafitinib) resulted in a partial response with a duration of response of 12.75 months in a patient with breast cancer harboring FGFR3 R248C (PMID: 37541273; NCT04083976). 37541273
FGFR3 R248C urinary bladder cancer predicted - sensitive Erdafitinib Case Reports/Case Series Actionable In a Phase II trial (THOR-2), Balversa (erdafitinib) improved median recurrence-free survival (not reached vs 11.6 mo, HR=0.28, p=0.0008) in patients with recurrent high risk non-muscle invasive bladder cancer harboring FGFR3 mutations such as S249C (n=31), R248C (n=4), G370C, (n=3) or Y373C (n=10) or FGFR2-BICC1 (n=1), FGFR3-BAIAP2L1 (n=1), or FGFR3-TACC3 (n=5) compared to intravesical chemotherapy (PMID: 37871701; NCT04172675). 37871701