Table 2.
Summary of Published Rare APC Variants Characterized by Functional Analysis
| Variant | Site | Predicted effect | Method | Result | Interpretation | Reference |
|---|---|---|---|---|---|---|
| c.423-6del8ins13 | Intron 3 | PTT* (RNA-based) | Aberrant splicing intron 3 | Pathogenic | 40 | |
| c.423-5A>G | Intron 3 | Transcript analysis (mRNA) | Deletion of exon 4 | Pathogenic | 35 | |
| c.423G>T | Exon 4 | p.Arg141Ser | Transcript analysis (mRNA) | Deletion of exon 4 | Pathogenic | 35 |
| c.531 + 5G>C | Intron 4 | Transcript analysis (mRNA) | Deletion of exon 4 | Pathogenic | 36 | |
| c.531 + 5_531 + 8delGTAA | Intron 4 | Transcript analysis (mRNA) | Deletion of exon 4 | Pathogenic | 35 | |
| c.834G>C | Exon 7 | p.Gln278 | Transcript analysis (mRNA) | Deletion of 11 bp, premature stop codon | Pathogenic | 40 |
| c.835-17A>G | Intron 7 | Transcript analysis (mRNA) | Insertion of 16 bp, premature stop codon | Pathogenic | 41 | |
| c.835-7T>G | Intron 7 | Transcript analysis (mRNA) | Insertion of 6 bp, premature stop codon | Pathogenic | 40 | |
| c.1312 + 3A>G | Intron 9 | Transcript analysis (mRNA) | Deletion of exon 9 | Pathogenic | 35 | |
| c.1312 + 5G>A | Intron 9 | Transcript analysis (mRNA) | Deletion of exon 9 | Pathogenic | 35 | |
| c.1312 + 5G>T | Intron 9 | Transcript analysis (mRNA) | Deletion of exon 9 | Pathogenic | 42 | |
| c.1419G>A | Exon 11 | p.Gln473 | Transcript analysis (mRNA) | Normal transcript | Nonpathogenic | 41 |
| c.1869G>T | Exon 14 | p.Arg623 | Transcript analysis (mRNA) | Deletion of exon 14 | Pathogenic | 34 |
| c.1956C>T | Exon 14 | p.His652 | Transcript analysis (mRNA) | Deletion of exon 14 | Pathogenic | 35 |
| c.1957A>G | Exon 14 | p.Arg653Gly | Transcript analysis (mRNA) | Deletion of exon 14 | Pathogenic | 35 |
| c.1957A>C | Exon 14 | p.Arg653 | Transcript analysis (mRNA) | Deletion of exon 14 | Pathogenic | 35 |
| c.1958 + 3A>G | Intron 14 | Transcript analysis (mRNA) | Deletion of exon 14 | Pathogenic | 35 | |
| c.1959G>A | Exon 15A | p.Arg653 | Transcript analysis (mRNA) | Normal transcript | Nonpathogenic | 35 |
| c.3077A>G | Exon 15E/F | p.Asn1026Ser | ß-catenin binding analysis | Reduced affinity for ß-catenin | Pathogenic | 43 |
| c.3871C>G | Exon 15G | p.Gln1291Glu | PTT* | Truncation† | Pathogenic | 44 |
| c.7504G>A | Exon 15T | p.Gly2502Ser | Transcript analysis (mRNA) | Normal transcript | Nonpathogenic | 17 |
| c.7862C>G | Exon 15 | p.Ser2621Cys | Transcript analysis (mRNA) | Normal transcript | Nonpathogenic | 17 |
*
Protein truncation test.
†
The reason for the truncated product was not identified.