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Gene FGFR3
Variant Y373C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 Y373C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). Y373C confers a gain of function to the Fgfr3 protein resulting in increased proliferation relative to wild-type Fgfr3 in a competition assay (PMID: 34272467), constitutive activation, downstream signaling (PMID: 11429702, PMID: 11157491), and transformation of cultured cells (PMID: 11429702, PMID: 11157491, PMID: 34272467).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 Y373C

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Transcript NM_000142.5
gDNA chr4:g.1804372A>G
cDNA c.1118A>G
Protein p.Y373C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011513420.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_006713872 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
NM_000142 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_011513420 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_006713873 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_011513422 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1804372A>G c.1118A>G p.Y373C RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 Y373C myeloid neoplasm sensitive Debio 1347 Preclinical Actionable In a preclinical study, Debio 1347 inhibited proliferation of myeloma cell lines harboring FGFR3 Y373C in culture (PMID: 25169980). 25169980
FGFR3 Y373C myeloid neoplasm no benefit RO4987655 Preclinical - Cell culture Actionable In a preclinical study, myeloma cells harboring FGFR3 Y373C were not sensitive to RO4987655 in culture (PMID: 26438159). 26438159
FGFR3 Y373C myeloid neoplasm no benefit RO5126766 Preclinical - Cell culture Actionable In a preclinical study, myeloma cells harboring FGFR3 Y373C were not sensitive to RO5126766 in culture (PMID: 26438159). 26438159
FGFR3 Y373C myeloid neoplasm no benefit Selumetinib Preclinical - Cell culture Actionable In a preclinical study, myeloma cells harboring FGFR3 Y373C were not sensitive to Selumetinib (AZD-6244) in culture (PMID: 26438159). 26438159
FGFR3 Y373C multiple myeloma sensitive E7090 Preclinical - Cell culture Actionable In a preclinical study, a multiple myeloma cell line harboring FGFR3 Y373C (PMID: 19901323) demonstrated sensitivity to E7090 in culture, resulting in decreased cell viability (PMID: 27535969). 19901323 27535969
FGFR3 Y373C 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 Y373C is included in the companion diagnostic (PMID: 31340094; NCT02365597). detail... 31340094 detail...
FGFR3 Y373C 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 Y373C is included in the companion diagnostic (PMID: 31340094; NCT02365597). detail... 31340094 detail...
FGFR3 Y373C bladder urothelial carcinoma predicted - sensitive Anlotinib + Sintilimab Case Reports/Case Series Actionable In a clinical case study, a patient with metastatic bladder urothelial cancer harboring FGFR3 Y373C, PIK3CA E542K and TP53 R213* who had previously progressed on combination treatment with Sintilimab (IBI308) and Abraxane (nab-paclitaxel), achieved a partial response after 3 cycles of combination treatment with Sintilimab (IBI308) and Anlotinib (AL-3818), and stable disease has been observed for over 11 months (PMID: 34109111). 34109111
FGFR3 Y373C Advanced Solid Tumor predicted - resistant Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 Y373C were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467
FGFR3 Y373C Advanced Solid Tumor predicted - resistant E7090 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 Y373C were resistant to treatment with E7090 in culture (PMID: 34272467). 34272467
FGFR3 Y373C Advanced Solid Tumor predicted - sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR3 Y373C were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR3 Y373C urinary bladder cancer predicted - sensitive Pemigatinib Case Reports/Case Series Actionable In a Phase II trial (FIGHT-207), Pemazyre (pemigatinib) treatment resulted in a partial response with a 50.8% decrease in target lesion and a progression-free survival of 6.2 months, and stable disease with a 30% decrease in target lesion and progression-free survival of 3.9 months in two patients with bladder cancer harboring FGFR3 Y373C (Cancer Res (2023) 83 (8_Supplement): CT016; NCT03822117). detail...
FGFR3 Y373C bladder urothelial carcinoma predicted - sensitive Pemigatinib Case Reports/Case Series Actionable In a clinical case study, Pemazyre (pemigatinib) treatment resulted in a partial response with a progression-free survival of 8.4 months in a patient with bladder urothelial cancer harboring FGFR3 Y373C (PMID: 37377403). 37377403
FGFR3 Y373C urinary bladder cancer sensitive Erdafitinib Phase II 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