APC T1556Nfs*3
Gene Variant Detail

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Gene APC
Variant T1556Nfs*3
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions APC T1556Nfs*3 indicates a shift in the reading frame starting at amino acid 1556 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T1556Nfs*3 retains binding with Axin1 but confers a loss of function to Apc as demonstrated by decreased beta-catenin recruitment, phosphorylation, and ubiquitination in cultured cells (PMID: 34352208).
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC T1556fs APC T1556Nfs*3

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Transcript NM_000038.6
gDNA chr5:g.112840260dupA
cDNA c.4666dupA
Protein p.T1556Nfs*3
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.1 chr5:g.112840260dupA c.4666dupA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001354900.2 chr5:g.112840383_112840384insACCCCTAA c.4666_4667insACCCCTAA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112840260dupA c.4666dupA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001354902.2 chr5:g.112840534delC c.4667delC p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112840260dupA c.4666dupA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001127510 chr5:g.112840258_112840259insG c.4664_4665insG p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112840260dupA c.4666dupA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112840260dupA c.4666dupA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112840260dupA c.4666dupA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112840260dupA c.4666dupA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_000038 chr5:g.112840258_112840259insG c.4664_4665insG p.T1556Nfs*3 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
APC T1556Nfs*3 desmoid tumor predicted - sensitive Celecoxib + Nirogacestat Case Reports/Case Series Actionable In a clinical case study, addition of Ogsiveo (nirogacestat) to Celecoxib treatment resulted in a reduction in tumor size and stable disease that was ongoing for at least 17 months in a pediatric patient with a desmoid tumor harboring APC T1556Nfs*3 (PMID: 32762028). 32762028