Table 1.
Detected causal variants affecting function of HAE in this study.
| Family ID | Individual ID | Gene | Chr | Position start-end | HGVS | Aminoacid change | HAE type | ACMG class |
|---|---|---|---|---|---|---|---|---|
| 1 | 1, 4 | SERPING1 | 11 | 57381947- 57381947 | c.1396C>T | p.Arg466Cys | II | Pathogenic |
| 2 | 5, 6 | F12 | 5 | 176831232- 176831232 | c.983G>T | p.Thr328Lys | HAE-nC1-INH | Likely pathogenic |
| 3 | 1, 2, 3 | SERPING1 | 11 | 57373471- 57373471 | c.686-12A>G | None | I | Likely pathogenic† |
| 4 | 1, 2 | SERPING1 | 11 | 57373548- 57373548 | c.751C>T | p.Leu251= | I | Benign |
| 5 | 1 | SERPING1 | 11 | 57369570- 57369570 | c.613T>C | p.Cys205Arg | I | Likely pathogenic |
| 9 | 1, 2 | SERPING1 | 11 | 57367442- 57367442 | c.143_144delCA | p.Thr48SerfsTer9 | I | Likely pathogenic |
| 10 | 1 | SERPING1 | 11 | 57378700-57378700 | c.1100T>C | p.Leu367Pro | I | Likely pathogenic† |
| 11 | 1 | SERPING1 | 11 | 57373548- 57373548 | c.751C>T | p.Leu251= | I | Benign |
† Validated previously VUS reclassified according to publicly available genomic information.