Table 5.
Summary of prioritized variants by gene
| Indel | Nonsense | Missense | Natural Splicing | Cryptic Splicing | Pseudoexon | SR Factor | TF | UTR Structure | UTR Binding | Total | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ATM | 0 | 0 | 14 | 2 | 0 | 0 | 18 | 0 | 0 | 1 | 34 a |
| BRCA1 | 2 | 0 | 2 | 0 | 0 | 1 | 7 | 1 | 0 | 0 | 13 |
| BRCA2 | 0 | 2 | 3 | 0 | 0 | 2 | 4 | 0 | 0 | 0 | 11 |
| CDH1 | 0 | 0 | 2 | 0 | 0 | 2 | 1 | 1 | 1 | 1 | 8 |
| CHEK2 | 0 | 0 | 2 | 1 | 0 | 0 | 3 | 0 | 0 | 2 | 6 a |
| PALB2 | 1 | 2 | 3 | 0 | 0 | 0 | 3 | 1 | 0 | 0 | 10 |
| TP53 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 2 | 0 | 2 | 5 |
| Total | 3 | 4 | 27 | 3 | 0 | 5 | 36 | 5 | 1 | 6 |
Three variants were prioritized under multiple categories: ATM chr11:108121730A > G (missense and SRFBS), CHEK2 chr22:29121242G > A (missense, UTR binding), and CHEK2 chr22:29130520C > T (missense, UTR binding)
a Counts represent the number of unique variants identified (i.e. a variant is not counted twice if it appeared in multiple individuals)