Table 2. BRCA2 pathogenic variants (identified in ≥three or more patients).
| Exon | AA change | BIC nomenclature | HGVS nomenclature | Effect on AA | Mutation pattern | Number |
|---|---|---|---|---|---|---|
| 11E | STOP1862 | 5804del4 | c.5576_5579delTTAA | p.lle1859Lysfs | Deletion | 8 |
| 10 | STOP429 | 1506delA | c.1278delA | p.Asn433Glnfs | Deletion | 5 |
| 20 | S2835X | 8732C>A | c.8504C>A | p.Ser2835Ter | Nonsense | 4 |
| 23 | P3039P | 9345G>A | c.9117G>A | p.Pro3039Pro | Silent | 4 |
| 12 | R2318X | 7180C>T | c.6952C>T | p.Arg2318Ter | Nonsense | 3 |
| 20 | STOP2868 | 8817insA | c.8589dupA | p.Ala2864Serfs*5 | Insertion | 3 |