Gene Variant Detail

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Gene APC
Variant T1556Nfs*3
Impact List frameshift
Protein Effect loss of function - predicted
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 has not been characterized however, due to the effects of other truncation mutations downstream of T1556 (PMID: 10346819), is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC T1556fs APC T1556Nfs*3

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Transcript NM_000038.5
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_000038.5 chr5:g.112840260dupA c.4666dupA p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001354895.1 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
NM_001354902.1 chr5:g.112840534delC c.4667delC p.T1556Nfs*3 RefSeq GRCh38/hg38
NM_001354900.1 chr5:g.112840383_112840384insACCCCTAA c.4666_4667insACCCCTAA 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

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  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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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 Nirogacestat (PF-03084014) 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