Gene Variant Detail

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Gene FGFR2
Variant M538I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 M538I (corresponds to M537I in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). M538I confers a gain of function to the Fgfr2 protein as demonstrated by increased Fgfr2 kinase activity (PMID: 32723837, PMID: 23908597) and enhanced cell proliferation in the presence of ligand in cell culture (PMID: 23908597), and has been associated with decreased sensitivity to some FGFR inhibitors (PMID: 23908597).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 M538I

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Transcript NM_000141.5
gDNA chr10:g.121498553C>G
cDNA c.1614G>C
Protein p.M538I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.4 chr10:g.121498553C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498556C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
XM_006717710 chr10:g.121500833C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
XM_006717710.5 chr10:g.121500833C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121498547C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121498556C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498556C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_022970 chr10:g.121498556C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_000141 chr10:g.121498553C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
XM_006717710.4 chr10:g.121500833C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121498553C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121498547C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121498556C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_001144913 chr10:g.121498556C>G c.1614G>C p.M538I RefSeq GRCh38/hg38
NM_001320658 chr10:g.121498547C>G c.1614G>C p.M538I RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 M538I Advanced Solid Tumor decreased response Dovitinib Preclinical Actionable In a preclinical study, transformed cells expressing FGFR2 M538I demonstrated a decreased response to treatment with Dovitinib (TKI258) (PMID: 23908597). 23908597
FGFR2 M538I Advanced Solid Tumor decreased response PD173074 Preclinical Actionable In a preclinical study, transformed cells expressing FGFR2 M538I demonstrated a decreased response to treatment with PD173074 (PMID: 23908597). 23908597
FGFR2 M538I Advanced Solid Tumor decreased response Ponatinib Preclinical Actionable In a preclinical study, transformed cells expressing FGFR2 M538I demonstrated a decreased response to treatment with Iclusig (ponatinib) (PMID: 23908597). 23908597
FGFR2 M538I breast cancer sensitive FIIN-3 + Fulvestrant Preclinical - Cell culture Actionable In a preclinical study, Faslodex (fulvestrant) and FIIN-3 combination treatment decreased viability of ESR1-positive breast cancer cells expressing FGFR2 M538I in culture (PMID: 32723837). 32723837
FGFR2 M538I estrogen-receptor positive breast cancer sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, AZD4547 treatment decreased viability of ESR1-positive breast cancer cells expressing FGFR2 M538I in culture (PMID: 32723837). 32723837
FGFR2 M538I estrogen-receptor positive breast cancer sensitive FIIN-2 Preclinical - Cell culture Actionable In a preclinical study, FIIN-2 treatment decreased viability of ESR1-positive breast cancer cells expressing FGFR2 M538I in culture (PMID: 32723837). 32723837
FGFR2 M538I estrogen-receptor positive breast cancer sensitive FIIN-3 Preclinical - Cell culture Actionable In a preclinical study, FIIN-3 treatment decreased viability of ESR1-positive breast cancer cells expressing FGFR2 M538I in culture (PMID: 32723837). 32723837
FGFR2 M538I estrogen-receptor positive breast cancer sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) treatment decreased viability of ESR1-positive breast cancer cells expressing FGFR2 M538I in culture (PMID: 32723837). 32723837
FGFR2 M538I estrogen-receptor positive breast cancer sensitive SHP099 Preclinical - Cell culture Actionable In a preclinical study, SHP099 treatment decreased viability of ESR1-positive breast cancer cells expressing FGFR2 M538I in culture (PMID: 32723837). 32723837