Table 1.
New mobile element insertions (MEI) detected in the retrospective cohort (n = 362).
| Event | Gene | Location | Coordinates (hg19) | Annotation | No. of samples | Molecular confirmation | Classification |
|---|---|---|---|---|---|---|---|
| 1 | RASA1 | Intron 8 | chr5:86647920 | L1 | 2 | Yes | VUS |
| 2 | RASA1 | Intron 1 | chr5:86597280 | AluYA5 | 8 | Yes | VUS |
| 3 | RASA1 | Intron 1 | chr5:86604030 | LIME3A | 20 | No | ND |
| 4 | ENG | Intron 2 | chr9:130597114 | AluYA5 | 13 | Yes | VUS |
| 5 | ENG | Intron 2 | chr9:130600053 | – | 2 | Yes | VUS |
| 6 | ACVRL1 | Intron 6 | chr12:52308548 | – | 1 | Yes | VUS |
| 7 | RASA1 | Intron 6 | chr5:86640516 | – | 1 | No | ND |
| 8 | CAV1 | Exon 2 | chr7:116166603 | – | 1 | No | ND |
| 9 | FGFR1 | Exon 6 | chr8:38283711 | MIRc | 1 | No | ND |
| 10 | ENG | Intron 3 | chr9:130591270 | LIME4a | 1 | No | ND |
| 11* | SMAD4 | Exon 1 | chr18:48556623 | LIME3E | 1 | Yes | Benign |
| 12* | SMAD4 | Intron 1 | chr18:48573287 | – | 1 | Yes | Benign |
| 13* | SMAD4 | Intron 11 | chr18:48604625 | – | 1 | Yes | Benign |
| 14 | AXIN2 | Exon 6 | chr17:63533653 | – | 1 | No | ND |
| 15 | PALB2 | Exon 9 | chr16:23634397 | – | 1 | Yes | Pathogenic |
Annotation was carried out by performing a Blast comparison between the rebuilt sequences and Repeatmasker data. * indicates MEI that were detected in the same sample. Molecular confirmation was performed by dedicated MEI PCR followed by Sanger sequencing, except for events 12 and 13, which were confirmed by next-generation sequencing analysis.
VUS variant of unknown significance, ND Not determined.