In order to assist the clinical interpretation of SV, AnnotSV provides on top of the annotations a ranking score to assess SV pathogenicity. This score is an adaptation of the work provided by the joint consensus recommendation of ACMG and ClinGen (
Riggs et al., 2020). We especially took attention in scoring as much as possible recessive SV observed in various dataset (NGS, array based...)
Scoring:
| 0.99 or more points |
Pathogenic |
Class 5 |
| 0.90 to 0.98 points |
Likely pathogenic |
Class 4 |
| 0.89 to −0.89 points |
Variant of uncertain significance |
Class 3 |
| −0.90 to −0.98 points |
Likely benign |
Class 2 |
| −0.99 or fewer points |
Benign |
Class 1 |
Method:
The comprehensive and detailed scoring guidelines are available in the
Scoring_Criteria_AnnotSV_latest.xlsx file (see Table1 for loss SV and Table2 for gain SV).
