Table 3.

Classification of germline variants

Variant typeMAFClinVar
Benign
 Any>0.5%
 Synonymous SNV≤0.5%
VUS
 Missense SNV≤0.5%Not pathogenic or probable—pathogenic
 In-frame INDEL≤0.5%Not pathogenic or probable—pathogenic
Deleterious
 Frameshift INDEL≤0.5%
 Nonsense SNV≤0.5%
 Splicing SNV or INDEL≤0.5%
 Missense SNV≤0.5%Pathogenic or probable—pathogenic
 In-frame INDEL≤0.5%Pathogenic or probable—pathogenic
 SV deletion