Table 1.
APC splicing mutations leading to an in-frame protein and skipping of exon 12 or exon 13.
| Gene | Variant (Human Genome Variation Society, HGVS) | Chromosome Position (GRCh37) |
Location | Observed Effect on splicing |
Effect on mRNA (HGVS) |
Effect on Protein (HGVS) |
Clinical Phenotype (Classic FAP/AFAP) |
Reference |
|---|---|---|---|---|---|---|---|---|
| APC | c.1621_1626+7del | chr5:g.112163698- 112163710del |
Exon 12/ Intron 12 |
Exon 12 skipping |
r.1549_1626del | p.A517_Q542del | AFAP | Present study |
| APC | c.1626G>C | chr5:g.112164552G>C | Exon 12 | Exon 12 skipping |
r.1549_1626del | p.A517_Q542del | n.d. | [45] |
| APC | c.1627G>T | chr5:g.112164553G>T | Exon 13 | Exon 13 skipping |
r.1627_1743del | p.V543_K581del | AFAP | [54] |
| APC | c.1742A>G | chr5:g.112164668A>G | Exon 13 | Exon 13 skipping |
r.1627_1743del | p.V543_K581del | AFAP | [59] |
n.d.: not discriminated.