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Gene | FGFR2 |
Variant | T319I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 T319I lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). T319I has been identified in sequencing studies (PMID: 37916958), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 T319I |
Transcript | NM_000141.5 |
gDNA | chr10:g.121517447G>A |
cDNA | c.956C>T |
Protein | p.T319I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001320658.2 | chr10:g.121517447G>A | c.956C>T | p.T319I | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121517447G>A | c.956C>T | p.T319I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 T319I PIK3CA N345K PIK3CA E453K | Her2-receptor negative breast cancer | predicted - resistant | Inavolisib | Case Reports/Case Series | Actionable | In a clinical case study, FGFR2 T319I was identified in circulating tumor DNA at the time of progression on Inavolisib (GDC-0077) in a patient with ESR1-positive, ERBB2 (HER2)-negative breast cancer harboring PIK3CA N345K and E453K (PMID: 37916958). | 37916958 |