Description

The Molecular Profile Description is a user-defined summary of the clinical relevance of the specific molecular profile.

The Molecular Profile Description should be a synthesis of the existing Evidence Statements for the Molecular Profile. Basic information on recurrence rates and biological/functional impact of the molecular profile may be included, but the focus should be on the clinical relevance of the Molecular Profile. Associated sources (PubMed IDs), including valuable review articles that might not be appropriate for the development of Evidence Items, may be used as references for the Molecular Profile Description.

For Molecular Profiles involving predisposing variants, any appropriate American College of Medical Genetics (ACMG) Pathogenicity evidence codes can be recorded to assist in the creation of Assertions involving the Molecular Profile. Note that this should only be done for those evidence codes that are safe to assess at the Molecular Profile level independent of the context of a specific disease. For example, one might assess codes relating to population frequency (e.g. ACMG code PM2/BA1/BS1 or Oncogenicity code SBVS1/SBS1), algorithmic predictions (e.g. ACMG code PP3 or Oncogenicity code OP1), evidence that a variant is considered to be at a Cancer Hotspot postion (e.g. Oncogenicity code OS3/OM3/OP3), and certain evidence relating to functional studies (e.g. ACMG code PS3 or Oncogenicity code OS2). It should be noted that the ACMG guidelines do not apply to complex Molecular Profiles, only single variant simple Molecular Profiles. Final classification of simple Molecular Profile should only be done at the Assertion level in the context of a specific disease. The same concepts are generally applicable to the ClinGen/CGC/VICC Oncogenicity evidence codes for Molecular Profiles involving oncogenic variants.