CriterionAssessment

An assertion of whether sufficient evidence exists to satisfy some pre-defined 'variant interpretation criterion', which defines requirements for a particular type of argument relevant to the pathogenicity of a genetic variant.

SEPIO:0000191
Descended from Statement

Scope and Usage

Variant interpretation criteria are provided as part of frameworks such as the ACMG Guidelines for charaterizing the pathogenicty of genetic variants. These criteria define relevant data types and rules for interpreting this data as evidence, to make a specific type of assertion about a variant that is ultimately relevant to its pathogenicity interpretation. For example, the PM2 ACMG criterion may be met based on a study showing a variant to be absent in a particular population of healthy individuals (e.g. non-Finnish Europeans in the ExAC database). Implicit in an this criterion being 'met' is the broader assertion that the frequency of the variant is sufficiently low in healthy populations to support a meaningful argument for the pathogenicity of the variant.

In the process of generating a variant interpretation through the ACMG workflow, criterion assessments are treate as 'intermediate' assertions that establish whether a particuar criterion is met or not for the variant under review. Evidence relevant to the merit of this assertion is organized around one or more evidence lines, and the criterion assessment is itself used as evidence for the final interpretation of the variant's pathogenicity.

Attributes

Name Type Cardinality Description IRI Defined in
criterion Criterion 0..1 The rule describing how the data is being used SEPIO:0000041 CriterionAssessment
variant CanonicalAllele 1..1 Variant about which the assemssment is made SEPIO:0000275 CriterionAssessment
statementOutcome @id 1..1 Result of assessing the data and criterion SEPIO:0000197 CriterionAssessment
condition GeneticCondition 0..* Condition for which the assessment is made SEPIO:0000276 CriterionAssessment
label string 0..1 A name given to the resource. RDFS:label Entity
description string 0..1 Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource. DC:description Entity
userLabelDictionary UserLabel 0..* An optional label defined by the user. Used for custom entities or to clarify the preferred user label on existing entities with non-preferred labels. SEPIO:0000422 Statement
outcomeQualifier string 0..1 Use “NOT” as the value of this property to assert that the statement is negated. SEPIO:0000346 Statement
evidenceLine EvidenceLine 0..* supporting evidence SEPIO:0000006 Statement
contribution Contribution 0..* The contributions (agent, time and role) made to this entity SEPIO:0000159 Statement
source string 0..* A string indicating the source of a Statement DC:source Statement

Instances