Community Profiles

Version 1 of the VA-Spec includes Statement and Evidence Line Community Profiles aligned with three established variant interpretation guidelines:

• the ACMG 2015 Pathogenicity Interpretation Guidelines

• the ClinGen/CGC/VICC (CCV) 2022 Oncogenicity Interpretation Guidelines

• the AMP/ASCO/CAP (AAC) Guidelines for Clinical Interpretation of Genetic Variants

These Community Profiles layer additional constraints on top of core class definitions to enforce alignment with terminology conventions of a specific community guideline. For example, ACMG-based profiles incorporate ACMG terminology into enuemrated value sets bound to core Statement and Evidence Line attributes, including:

• ACMG criterion codes (PS3, BS3)

• ACMG criterion assessment outcomes (met, not met)

• ACMG evidence strengths (strong, supporting, moderate)

• ACMG classification outcomes (pathogenic, likely pathogenic, benign, likely benign, VUS)

See here for a simple data example of an ACMG-aligned Variant Pathogenicity Statement.

See here for a description of how constraints in Community Pofiles are authored.

---

Index:

• ACMG 2015 Aligned Profiles
• CCV 2022 Aligned Profiles
• AMP/ASCO/CAP 2017 Aligned Profiles