Role of Propositions in Statements

acmg-2015-profile-source.yaml

How a Proposition flows from an abridged Variant Pathogenicity Statement model, through a concrete data example, to its plain-language meaning. Proposition-related content is highlighted throughout.

Model
D
«Statement»
VariantPathogenicityStatement
proposition: VariantPathogenicity-
  Proposition
direction: enum
strength: MappableConcept
classification: MappableConcept
quality: MappableConcept
specifiedBy: Method
contributions: 0..m
quality is populated on the top-level Statement only — a trust/review-status signal for the assessment as a whole, distinct from (but analogous to) the rigor of its specifiedBy Method or the trust of a contributions entry's contributor.
Data Example
{
"type": "Statement",
"proposition": {
"type": "VariantPathogenicity
  Proposition",
"subject": "SOS1:c.3322G>A",
"predicate": "isCausalFor",
"object": "RASopathy"
},
"direction": "disputes",
"strength": "likely",
"outcome": "likely benign",
"quality": "expert panel",
"specifiedBy": {
"name": "ClinGen RASopathy
  ACMG Specifications v1",
"methodType": "variant_
  pathogenicity_interpretation"
},
"contributions": [{
"contributor": "ClinGen
  RASopathy VCEP"
}]
}
Meaning
"There is likely evidence disputing the proposition that SOS1:c.3322G>A is causal for RASopathy — assessed overall as likely benign, per the ClinGen RASopathy ACMG Specifications v1 method, contributed by the ClinGen RASopathy VCEP. Because an expert panel authored and reviewed it, the Statement's overall quality is rated expert panel."
proposition-related content DDraft maturity