Genomics Reporting Implementation Guide
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This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: ATR-insertion-significance - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="ATR-insertion-significance"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"/>
  </meta>
  <text>
    <status value="extensions"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative: Observation</b><a name="ATR-insertion-significance"> </a></p><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">Resource Observation &quot;ATR-insertion-significance&quot; </p><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-diagnostic-implication.html">Diagnostic Implication</a></p></div><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html">Observation Category Codes</a>#laboratory)</span>, Genetics <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Diagnostic Implication <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="CodeSystem-tbd-codes-cs.html">To Be Determined Codes</a>#diagnostic-implication)</span></p><p><b>subject</b>: <a href="Patient-somaticPatient.html">Patient/somaticPatient</a> &quot; HAMSBURG&quot;</p><p><b>effective</b>: 2023-02-01</p><p><b>performer</b>: <a href="Practitioner-pathologistPractitioner.html">Practitioner/pathologistPractitioner</a> &quot; DOLIN&quot;</p><p><b>derivedFrom</b>: <a href="Observation-ATR-insertion-var.html">Observation/ATR-insertion-var</a></p><blockquote><p><b>component</b></p><p><b>code</b>: Genetic variation clinical significance [Imp] <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#53037-8)</span></p><p><b>value</b>: Likely Pathogenic <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#LA26332-9)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>Related Artifact for Observation component</b>: </p><p><b>code</b>: Level of evidence <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#93044-6)</span></p><p><b>value</b>: Tier 2C <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> ()</span></p></blockquote><blockquote><p><b>component</b></p><p><b>Related Artifact for Observation component</b>: </p><p><b>code</b>: Conclusion Text <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="CodeSystem-tbd-codes-cs.html">To Be Determined Codes</a>#conclusion-string)</span></p><p><b>value</b>: The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved ... more</p></blockquote><blockquote><p><b>component</b></p><p><b>Related Artifact for Observation component</b>: </p><p><b>code</b>: Level of evidence <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#93044-6)</span></p><p><b>value</b>: Tier 2C <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> ()</span></p></blockquote></div>
  </text>
  <status value="final"/>
  <category>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
    </coding>
  </category>
  <code>
    <coding>
      <system
              value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
      <code value="diagnostic-implication"/>
      <display value="Diagnostic Implication"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/somaticPatient"/>
  </subject>
  <effectiveDateTime value="2023-02-01"/>
  <performer>🔗 
    <reference value="Practitioner/pathologistPractitioner"/>
  </performer>
  <derivedFrom>🔗 
    <reference value="Observation/ATR-insertion-var"/>
  </derivedFrom>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="53037-8"/>
        <display value="Genetic variation clinical significance [Imp]"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA26332-9"/>
        <display value="Likely Pathogenic"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <extension
               url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component">
      <valueRelatedArtifact>
        <type value="citation"/>
        <url
             value="https://www.jmdjournal.org/cms/attachment/ee43a71b-81de-4cb3-ac5e-2fb9a7d41491/gr2.jpg"/>
      </valueRelatedArtifact>
    </extension>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="93044-6"/>
        <display value="Level of evidence"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <text value="Tier 2C"/>
    </valueCodeableConcept>
  </component>
  <component>
    <extension
               url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component">
      <valueRelatedArtifact>
        <type value="citation"/>
        <url
             value="https://www.ncbi.nlm.nih.gov/gene/545#:~:text=ATR%20may%20function%20as%20an,radiation%20when%20ATM%20is%20deficient"/>
      </valueRelatedArtifact>
    </extension>
    <code>
      <coding>
        <system
                value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
        <code value="conclusion-string"/>
      </coding>
    </code>
    <valueString
                 value="The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved ... more"/>
  </component>
  <component>
    <extension
               url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component">
      <valueRelatedArtifact>
        <type value="citation"/>
        <url
             value="https://www.jmdjournal.org/cms/attachment/ee43a71b-81de-4cb3-ac5e-2fb9a7d41491/gr2.jpg"/>
      </valueRelatedArtifact>
    </extension>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="93044-6"/>
        <display value="Level of evidence"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <text value="Tier 2C"/>
    </valueCodeableConcept>
  </component>
</Observation>