SV ranking/classification

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 (DEL) and Table2 for gain SV (DUP).