In order to assist the clinical interpretation of SV, AnnotSV provides on top of the annotations a systematic classification of each SV into one of the 5 classes proposed by the ACMG guidelines using the following data and criteria:

Data:

- Frequent SV from gnomAD (the ones with a GD_POPMAX_AF > 1%)
- Benign SV from the DGV Gold Standard corresponding to a gain (the ones with DGV_GAIN_Frequency > 1% and with DGV_GAIN_n_samples_tested > 500 (default))
- Benign SV from the DGV Gold Standard corresponding to a loss (the ones with DGV_LOSS_Frequency > 1% and with DGV_LOSS_n_samples_tested > 500 (default))
- Pathogenic SV from the dbVar NR-SV dataset
- pLI scores of each genes from ExAC
- Haploinsufficiency (HI) and triplosensitivity (TriS) scores from ClinGen
- Morbid genes from OMIM
- Candidate morbid genes from OMIM
- Candidate genes provided by the user
- Enhancer and promoter elements from GeneHancer

Criteria:

- Class 1 (benign): - Class 2 (likely benign): - Class 3 (variant of unknown significance): - Class 4 (likely pathogenic): - Class 5 (pathogenic):