Role of Propositions in Evidence Lines

acmg-2015-profile-source.yaml

How a Proposition flows from an abridged VariantPathogenicityEvidenceLine model (a subclass of the distinct EvidenceLine class), through a concrete data example, to its plain-language meaning. Proposition-related content is highlighted throughout.

Model
D
«EvidenceLine»
VariantPathogenicityEvidenceLine
targetProposition: 0..1
directionOfEvidenceProvided: enum
strengthOfEvidenceProvided: 0..1
evidenceOutcome: 0..1
specifiedBy: Method
hasEvidenceItems: 0..m
Data Example
{
"type": "EvidenceLine",
"targetProposition":
"Proposition001",
"directionOfEvidenceProvided":
"disputes",
"strengthOfEvidenceProvided":
"strong",
"evidenceOutcome": "BS1",
"specifiedBy": {
"methodType": "population_
  data_assessment"
},
"hasEvidenceItems": [{
"type": "CohortAllele
  FrequencyStudyResult",
"focus": "SOS1:c.3322G>A",
"alleleFrequency": "0.039%
  (Latino)",
"sourceDataSet": "gnomAD v3"
}]
}
Meaning
"A gnomAD v3 Cohort Allele Frequency record — SOS1:c.3322G>A present in 0.039% of Latino alleles — is assessed via a population-frequency method toward the same proposition assessed by the parent Statement (that SOS1:c.3322G>A is causal for RASopathy), providing strong evidence disputing it — meeting the BS1 criterion."
proposition-related content DDraft maturity