Gene Variant Detail

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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 constitutive activation, downstream signaling, and transformation of cultured cells (PMID: 11429702, PMID: 11157491).
Associated Drug Resistance

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Transcript NM_000142
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 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_006713873 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_000142 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 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 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 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 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 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 FGFR3 over exp multiple myeloma sensitive PD173074 Preclinical Actionable In a preclinical study, PD173074 inhibited Fgfr3 signaling and decreased proliferation and survival of multiple myeloma cells over expressing FGFR3 Y373C in culture (PMID: 22869148). 22869148
FGFR3 Y373C FGFR3 over exp multiple myeloma sensitive AZ8010 Preclinical Actionable In a preclinical study, AZ8010 inhibited Fgfr3 signaling, induced cell-cycle arrest, and decreased proliferation of multiple myeloma cells over expressing FGFR3 Y373C in culture (PMID: 22869148). 22869148
AKT1 E17K FGFR3 Y373C urinary bladder cancer sensitive AZD4547 + Capivasertib Preclinical Actionable In a preclinical study, the combined therapy of AZD5363 and AZD4547 resulted in tumor regression in urinary bladder cancer xenograft models simultaneously harboring the mutations, AKT1 E17K and FGFR3 Y373C (PMID: 26351323). 26351323