Single transcript for ACMG classification

Single transcript for ACMG classification

Until now, VarSome has been using automatically the canonical transcript as the default transcript for automated interpretation of ACMG guidelines. However, since today:

• The transcript is chosen based on the severity of the coding impact, then whether there’s a canonical transcript, and failing that, whichever transcript encodes the longest protein.
• On VarSome.com, the user can manually override the default transcript for ACMG classification. For example if the variant has a different coding impact in that transcript it may change the ACMG verdict.

The blue question mark next to the transcript explains why the transcript was automatically selected:

This feature is also available in VarSome Clinical, where you can even define your preferred transcript for annotation of each gene on a global level, which may be quite useful for accreditation and validation purposes.

Presenting VarSome Clinical