Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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
XM_047449822.1 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_006713873.1 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_001163213 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_011513422.2 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
XM_006713869.1 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 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
XM_011513422.1 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
XM_006713871 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_047449821.1 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
NM_022965.3 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
NM_001354809.2 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
NM_001354809.1 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_001163213.1 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_006713868.1 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_006713870.2 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_006713869.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38
NM_000142 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
XM_011513422 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_000142.4 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
NM_001354810.2 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
NM_001163213.2 chr4:g.1801837C>T c.742C>T p.R248C RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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 Guideline Actionable Balversa (erdafitinib) is included in guidelines for patients with advanced urothelial carcinoma who have received chemotherapy and an immune checkpoint inhibitor and harboring select FGFR mutations including FGFR3 R248C (PMID: 38490358; ESMO.org). 38490358 detail...
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 transitional cell carcinoma sensitive Erdafitinib Case Reports/Case Series Actionable In a Phase III trial (THOR), Balversa (erdafitinib) treatment led to improved median overall survival (25.4 mo vs. 12.4 mo), median progression-free survival (8.4 mo vs. 2.9 mo), objective response rate (57.1% vs. 15.4%), and disease control rate (92.9% vs. 76.9%) compared to chemotherapy in Japanese patients with metastatic urothelial carcinoma with alterations in FGFR2 or FGFR3 (n=14), including FGFR3 Y373C (n=3), S249C (n=4), G370C (n=2), R248C (n=2), and FGFR3-TACC3 (n=3) (PMID: 39017806; NCT03390504). 39017806
FGFR3 R248C bladder urothelial carcinoma sensitive Erdafitinib Guideline Actionable Balversa (erdafitinib) is included in guidelines for patients with advanced bladder urothelial carcinoma who have received chemotherapy and an immune checkpoint inhibitor and harboring select FGFR mutations including FGFR3 R248C (PMID: 38490358; ESMO.org). 38490358 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