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Gene | APC |
Variant | S299Tfs*7 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC S299Tfs*7 indicates a shift in the reading frame starting at amino acid 299 and terminating 7 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). S299Tfs*7 has not been characterized, however, due to the effects of other truncation mutations downstream of S299 (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 S299Tfs*7 |
Transcript | NM_000038.6 |
gDNA | chr5:g.112815553_112815554dupAC |
cDNA | c.893_894dupAC |
Protein | p.S299Tfs*7 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407450.1 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_001407449.1 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_001407447.1 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_001407458.1 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_001354896.2 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_001407459.1 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_001407460.1 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_001407456.1 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_001407455.1 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_001407448.1 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_001407454.1 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_001407457.1 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_001354903.2 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_001127511.3 | chr5:g.(112818981_112819004) | c.(895_918) | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112815553_112815554dupAC | c.893_894dupAC | p.S299Tfs*7 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
APC S299Tfs*7 APC R805* | colorectal cancer | sensitive | G007-LK | Preclinical - Cell culture | Actionable | In a preclinical study, G007-LK inhibited viability of a patient-derived colorectal cancer cell line harboring APC R805* and S299Tfs*7 in culture (PMID: 37968472). | 37968472 |