Variants
PIK3CA variants
The 5 PIK3CA variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| E110del | c.328_330del | Exon 2 | 179,199,149 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E542K | c.1624G>A | Exon 10 | 179,218,294 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E726K | c.2176G>A | Exon 14 | 179,221,146 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G914R | c.2740G>A | Exon 19 | 179,230,077 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H1047R | c.3140A>G | Exon 21 | 179,234,297 | Pathogenic | 3 stars out of 4 reviewed by expert panel |