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Gene | APC |
Variant | V830Gfs*12 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC V830Gfs*12 indicates a shift in the reading frame starting at amino acid 830 and terminating 12 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). V830Gfs*12 has not been characterized, however, due to the effects of other truncation mutations downstream of V830 (PMID: 18199528, 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 V830Gfs*12 |
Transcript | NM_000038.6 |
gDNA | chr5:g.112838083delT |
cDNA | c.2489delT |
Protein | p.V830Gfs*12 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407450.1 | chr5:g.112838083delT | c.2489delT | p.V830Gfs*12 | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112838083delT | c.2489delT | p.V830Gfs*12 | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112838083delT | c.2489delT | p.V830Gfs*12 | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112838083delT | c.2489delT | p.V830Gfs*12 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
APC V830Gfs*12 APC T1556Nfs*3 | colorectal cancer | resistant | G007-LK | Preclinical - Cell culture | Actionable | In a preclinical study, a patient-derived colorectal cancer cell line harboring APC V830Gfs*12 and T1556Nfs*3, along with PIK3CA E542K, was resistant to G007-LK treatment, as demonstrated by failure to inhibit viability in culture (PMID: 37968472). | 37968472 |