{
  "resourceType" : "Observation",
  "id" : "variant-with-molec-consequences",
  "meta" : {
    "profile" : ["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation variant-with-molec-consequences</b></p><a name=\"variant-with-molec-consequences\"> </a><a name=\"hcvariant-with-molec-consequences\"> </a><div style=\"display: inline-block; background-color: #fbffeb; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-variant.html\">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-HG00403.html\">Alanine B. Everyone  Unknown, DoB: 1951-01-20 ( Medical Record Number: m234\u00a0(use:\u00a0usual))</a></p><p><b>effective</b>: 2023-06-01</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Some lab</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6683-2}\">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence ID</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000001.10}\">NC_000001.10</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6706-1}\">Heterozygous</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81252-9}\">Discrete genetic variant</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NC_000001.10:g.86852621A&gt;G}\">NC_000001.10:g.86852621A&gt;G</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample VAF</span></p><p><b>value</b>: 0.6 relative frequency of a particular allele in the specimen<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Genomic Ref allele [ID]</span></p><p><b>value</b>: A</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69551-0}\">Genomic Alt allele [ID]</span></p><p><b>value</b>: G</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 92822-6}\">Genomic coord system</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA30100-4}\">0-based interval counting</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81254-5}\">Variant exact start-end</span></p><p><b>value</b>: 86852620-?</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 92821-8}\">Population allele frequency</span></p><p><b>value</b>: 0.327084 1<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code1 = '1')</span></p></blockquote></div>"
  },
  "status" : "final",
  "category" : [{
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
      "code" : "laboratory"
    }]
  },
  {
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
      "code" : "GE"
    }]
  }],
  "code" : {
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "69548-6",
      "display" : "Genetic variant assessment"
    }]
  },
  "subject" : {
    "reference" : "Patient/HG00403"
  },
  "effectiveDateTime" : "2023-06-01",
  "performer" : [{
    "reference" : "Organization/ExampleLab"
  }],
  "valueCodeableConcept" : {
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "LA9633-4",
      "display" : "Present"
    }]
  },
  "component" : [{
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48002-0",
        "display" : "Genomic source class"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "LA6683-2",
        "display" : "Germline"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48013-7",
        "display" : "Genomic reference sequence ID"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.ncbi.nlm.nih.gov/refseq",
        "code" : "NC_000001.10"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "53034-5",
        "display" : "Allelic state"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "LA6706-1",
        "display" : "Heterozygous"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81252-9",
        "display" : "Discrete genetic variant"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://varnomen.hgvs.org",
        "code" : "NC_000001.10:g.86852621A>G",
        "display" : "NC_000001.10:g.86852621A>G"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81258-6",
        "display" : "Sample VAF"
      }]
    },
    "valueQuantity" : {
      "value" : 0.6,
      "unit" : "relative frequency of a particular allele in the specimen",
      "system" : "http://unitsofmeasure.org",
      "code" : "1"
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "69547-8",
        "display" : "Genomic Ref allele [ID]"
      }]
    },
    "valueString" : "A"
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "69551-0",
        "display" : "Genomic Alt allele [ID]"
      }]
    },
    "valueString" : "G"
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "92822-6",
        "display" : "Genomic coord system"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "LA30100-4",
        "display" : "0-based interval counting"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81254-5"
      }],
      "text" : "Variant exact start-end"
    },
    "valueRange" : {
      "low" : {
        "value" : 86852620
      }
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "92821-8"
      }],
      "text" : "Population allele frequency"
    },
    "valueQuantity" : {
      "value" : 0.327084,
      "system" : "http://unitsofmeasure.org",
      "code" : "1"
    }
  }]
}