{
  "resourceType" : "Observation",
  "id" : "ctdna9737383222-seqv1",
  "meta" : {
    "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/Variant"]
  },
  "language" : "en",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation ctdna9737383222-seqv1</b></p><a name=\"ctdna9737383222-seqv1\"> </a><a name=\"hcctdna9737383222-seqv1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; 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 (Observation)</a></p></div><p><b>identifier</b>: ctdna9737383222-seqv1</p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</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-Patient-Leeds.html\">Rob LEEDS (official) Male, DoB: 1978-01-17 ( Medical record number)</a></p><p><b>effective</b>: 2026-07-14 15:59:16+0000</p><p><b>performer</b>: <a href=\"PractitionerRole-59577028-8fcc-4554-8b43-988561d41d9c.html\">PractitionerRole</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 83005-9}\">Variant category</span></p><p><b>value</b>: <span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/IGeneVariantCategory SEQV}\">Sequence Variant</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:1100}\">BRCA1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class [Type]</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_000017.10}\">NC_000017.10</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 92822-6}\">Genomic coordinate system [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA30102-0}\">1-based character counting</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>: TCT</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>: T</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:0000159}\">deletion</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_007294.3}\">NM_007294.3</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_007294.3(BRCA1):c.68_69del}\">NM_007294.3(BRCA1):c.68_69del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org p.(Glu23ValfsTer17)}\">p.(Glu23ValfsTer17)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org g.41276047_41276048del}\">g.41276047_41276048del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 94186-4}\">Origin of germline genetic variant [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA26320-4}\">Maternal</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81254-5}\">Genomic allele start-end</span></p><p><b>value</b>: 41276046-?</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency [NFr]</span></p><p><b>value</b>: 0.33 decimal</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></div>"
  },
  "identifier" : [{
    "value" : "ctdna9737383222-seqv1"
  }],
  "status" : "final",
  "category" : [{
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
      "code" : "GE",
      "display" : "Genetics"
    }]
  },
  {
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
      "code" : "laboratory"
    }]
  }],
  "code" : {
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "69548-6"
    }]
  },
  "subject" : {
    "reference" : "Patient/Patient-Leeds"
  },
  "effectiveDateTime" : "2026-07-14T15:59:16+00:00",
  "performer" : [{
    "reference" : "PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c"
  }],
  "valueCodeableConcept" : {
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "LA9633-4",
      "display" : "Present"
    }]
  },
  "method" : {
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "LA26398-0",
      "display" : "Sequencing"
    }]
  },
  "component" : [{
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "83005-9",
        "display" : "Variant category"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/IGeneVariantCategory",
        "code" : "SEQV",
        "display" : "Sequence Variant"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48018-6",
        "display" : "Gene studied [ID]"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.genenames.org",
        "code" : "HGNC:1100",
        "display" : "BRCA1"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48002-0",
        "display" : "Genomic source class [Type]"
      }]
    },
    "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_000017.10"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "92822-6",
        "display" : "Genomic coordinate system [Type]"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "LA30102-0",
        "display" : "1-based character counting"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "69547-8",
        "display" : "Genomic ref allele [ID]"
      }]
    },
    "valueString" : "TCT"
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "69551-0",
        "display" : "Genomic alt allele [ID]"
      }]
    },
    "valueString" : "T"
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48019-4",
        "display" : "DNA change type"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.sequenceontology.org",
        "code" : "SO:0000159",
        "display" : "deletion"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "51958-7",
        "display" : "Transcript reference sequence [ID]"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.ncbi.nlm.nih.gov/refseq",
        "code" : "NM_007294.3"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48004-6",
        "display" : "DNA change (c.HGVS)"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://varnomen.hgvs.org",
        "code" : "NM_007294.3(BRCA1):c.68_69del"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48005-3",
        "display" : "Amino acid change (pHGVS)"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://varnomen.hgvs.org",
        "code" : "p.(Glu23ValfsTer17)"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81290-9",
        "display" : "Genomic DNA change (gHGVS)"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://varnomen.hgvs.org",
        "code" : "g.41276047_41276048del"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "53037-8",
        "display" : "Genetic variation clinical significance [Imp]"
      }]
    },
    "valueCodeableConcept" : {
      "text" : "Pathogenic"
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "94186-4",
        "display" : "Origin of germline genetic variant [Type]"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "LA26320-4",
        "display" : "Maternal"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81254-5",
        "display" : "Genomic allele start-end"
      }]
    },
    "valueRange" : {
      "low" : {
        "value" : 41276046
      }
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81258-6",
        "display" : "Sample variant allelic frequency [NFr]"
      }]
    },
    "valueQuantity" : {
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      "unit" : "decimal",
      "system" : "http://unitsofmeasure.org"
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "53034-5",
        "display" : "Allelic state"
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    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "LA6706-1",
        "display" : "heterozygous"
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  }]
}