Splicing Annotation

If a variant falls within N bp of the splice site, it is annotated as splicing. Our tools employ two "splicing" definitions:

  • ACMG rule: defined as "within 2 bp of the splice site"
  • our own rule: defined as "within 10 bp of the splice site"

Our tools also use the scSNV database (SNVs only) when evaluating ACMG rule BP7: