VarSome Clinical

Single transcript for ACMG classification

By Tomas Kucera on August, 27 2019

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Tomas Kucera

Head of Strategic Alliances & Channel Partners

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, 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.

Transcript selection for ACMGThe blue question mark next to the transcript explains why the transcript was automatically selected:

Selection explanation

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.

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