Skip to content

Class: VariantInterpretation

URI: phenopackets:VariantInterpretation

erDiagram VariantInterpretation { AcmgPathogenicityClassification acmgPathogenicityClassification TherapeuticActionability therapeuticActionability } VariationDescriptor { stringList alternateLabels string description string id string label MoleculeContext moleculeContext string vrsRefAlleleSeq stringList xrefs } VcfRecord { string alt string chrom string filter string genomeAssembly string id string info integer pos string qual string ref } Variation { } OntologyClass { string id string label } GeneDescriptor { stringList alternateIds stringList alternateSymbols string description string symbol string valueId stringList xrefs } Extension { string name stringList value } Expression { string syntax string value string version } VariantInterpretation ||--|o VariationDescriptor : "variationDescriptor" VariationDescriptor ||--|o OntologyClass : "allelicState" VariationDescriptor ||--}o Expression : "expressions" VariationDescriptor ||--}o Extension : "extensions" VariationDescriptor ||--|o GeneDescriptor : "geneContext" VariationDescriptor ||--|o OntologyClass : "structuralType" VariationDescriptor ||--|o Variation : "variation" VariationDescriptor ||--|o VcfRecord : "vcfRecord" Variation ||--|o Allele : "allele" Variation ||--|o CopyNumber : "copyNumber" Variation ||--|o Haplotype : "haplotype" Variation ||--|o Text : "text" Variation ||--|o VariationSet : "variationSet"

Slots

Name Cardinality and Range Description Inheritance
acmgPathogenicityClassification 0..1
AcmgPathogenicityClassification		 direct
therapeuticActionability 0..1
TherapeuticActionability		 direct
variationDescriptor 0..1
VariationDescriptor		 direct

Usages

used by used in type used
GenomicInterpretation variantInterpretation range VariantInterpretation

Identifier and Mapping Information

Schema Source

  • from schema: https://w3id.org/linkml/phenopackets/phenopackets

Mappings

Mapping Type Mapped Value
self phenopackets:VariantInterpretation
native phenopackets:VariantInterpretation

LinkML Source

Direct

name: VariantInterpretation
description: ''
from_schema: https://w3id.org/linkml/phenopackets/phenopackets
attributes:
  acmgPathogenicityClassification:
    name: acmgPathogenicityClassification
    annotations:
      rank:
        tag: rank
        value: 1
    description: ''
    from_schema: https://w3id.org/linkml/phenopackets/phenopackets
    rank: 1000
    domain_of:
    - VariantInterpretation
    range: AcmgPathogenicityClassification
  therapeuticActionability:
    name: therapeuticActionability
    annotations:
      rank:
        tag: rank
        value: 2
    description: ''
    from_schema: https://w3id.org/linkml/phenopackets/phenopackets
    rank: 1000
    domain_of:
    - VariantInterpretation
    range: TherapeuticActionability
  variationDescriptor:
    name: variationDescriptor
    annotations:
      rank:
        tag: rank
        value: 3
    description: ''
    from_schema: https://w3id.org/linkml/phenopackets/phenopackets
    rank: 1000
    domain_of:
    - VariantInterpretation
    range: VariationDescriptor

Induced

name: VariantInterpretation
description: ''
from_schema: https://w3id.org/linkml/phenopackets/phenopackets
attributes:
  acmgPathogenicityClassification:
    name: acmgPathogenicityClassification
    annotations:
      rank:
        tag: rank
        value: 1
    description: ''
    from_schema: https://w3id.org/linkml/phenopackets/phenopackets
    rank: 1000
    alias: acmgPathogenicityClassification
    owner: VariantInterpretation
    domain_of:
    - VariantInterpretation
    range: AcmgPathogenicityClassification
  therapeuticActionability:
    name: therapeuticActionability
    annotations:
      rank:
        tag: rank
        value: 2
    description: ''
    from_schema: https://w3id.org/linkml/phenopackets/phenopackets
    rank: 1000
    alias: therapeuticActionability
    owner: VariantInterpretation
    domain_of:
    - VariantInterpretation
    range: TherapeuticActionability
  variationDescriptor:
    name: variationDescriptor
    annotations:
      rank:
        tag: rank
        value: 3
    description: ''
    from_schema: https://w3id.org/linkml/phenopackets/phenopackets
    rank: 1000
    alias: variationDescriptor
    owner: VariantInterpretation
    domain_of:
    - VariantInterpretation
    range: VariationDescriptor