Community Profiles

Version 1 of the VA-Spec includes Community Profiles aligned with three established variant interpretation guidelines. Each profile constrains the core Statement class – some describing Statements proper, and others describing Statements used as Evidence Lines:

• 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 enumerated value sets bound to core Statement attributes, including:

• ACMG method types, naming the criterion assessed (population_data_assessment, functional_data_assessment)

• ACMG evidence outcomes, combining the criterion code with its assessed strength (PS3, PS3_moderate, PS3_not_met, no_criteria_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.

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Index:

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