# ATR-insertion-significance - Genomics Reporting Implementation Guide v4.0.0-cibuild

* [**Table of Contents**](toc.md)
* [**Artifact List**](artifacts.md)
* **ATR-insertion-significance**

## Example Observation: ATR-insertion-significance

| |
| :--- |
| *Page standards status:*[Informative](http://hl7.org/fhir/R4/versions.html#std-process) |

Profile: [Diagnostic Implication](StructureDefinition-diagnostic-implication.md)

**status**: Final

**category**: Laboratory, Genetics

**code**: Diagnostic Implication

**subject**: [Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --> (ongoing)))](Patient-somaticPatient.md)

**effective**: 2023-02-01

**performer**: [Practitioner Test Dolin](Practitioner-pathologistPractitioner.md)

**derivedFrom**: [Observation Genetic variant assessment](Observation-ATR-insertion-var.md)

> **component****code**:Genetic variation clinical significance [Imp]**value**:Likely Pathogenic

> **component****Related artifact**: No display for RelatedArtifact (type: citation; url: https://www.jmdjournal.org/cms/attachment/ee43a71b-81de-4cb3-ac5e-2fb9a7d41491/gr2.jpg)**code**:Level of evidence**value**:Tier 2C

> **component****Related artifact**: No display for RelatedArtifact (type: citation; url: https://www.ncbi.nlm.nih.gov/gene/545#:~:text=ATR%20may%20function%20as%20an,radiation%20when%20ATM%20is%20deficient)**code**:Conclusion Text**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



## Resource Content

```json
{
  "resourceType" : "Observation",
  "id" : "ATR-insertion-significance",
  "meta" : {
    "profile" : [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
    ]
  },
  "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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "diagnostic-implication",
        "display" : "Diagnostic Implication"
      }
    ]
  },
  "subject" : {
    "reference" : "Patient/somaticPatient"
  },
  "effectiveDateTime" : "2023-02-01",
  "performer" : [
    {
      "reference" : "Practitioner/pathologistPractitioner"
    }
  ],
  "derivedFrom" : [
    {
      "reference" : "Observation/ATR-insertion-var"
    }
  ],
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "53037-8",
            "display" : "Genetic variation clinical significance [Imp]"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "LA26332-9",
            "display" : "Likely Pathogenic"
          }
        ]
      }
    },
    {
      "extension" : [
        {
          "url" : "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
          "valueRelatedArtifact" : {
            "type" : "citation",
            "url" : "https://www.jmdjournal.org/cms/attachment/ee43a71b-81de-4cb3-ac5e-2fb9a7d41491/gr2.jpg"
          }
        }
      ],
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "93044-6",
            "display" : "Level of evidence"
          }
        ]
      },
      "valueCodeableConcept" : {
        "text" : "Tier 2C"
      }
    },
    {
      "extension" : [
        {
          "url" : "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
          "valueRelatedArtifact" : {
            "type" : "citation",
            "url" : "https://www.ncbi.nlm.nih.gov/gene/545#:~:text=ATR%20may%20function%20as%20an,radiation%20when%20ATM%20is%20deficient"
          }
        }
      ],
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
            "code" : "conclusion-string"
          }
        ]
      },
      "valueString" : "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"
    }
  ]
}

```
