Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

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

Example Observation: ATR-insertion-molc

Generated Narrative: Observation

Resource Observation "ATR-insertion-molc"

Profile: Molecular Consequence

status: final

category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)

code: Molecular Consequence (To Be Determined Codes#molecular-consequence)

subject: Patient/CGPatientExample01 " EVERYMAN"

effective: 2023-02-01

performer: Practitioner/pathologistPractitioner " DOLIN"

derivedFrom: Observation/ATR-insertion-var

component

code: coding HGVS (LOINC#48004-6)

value: NM_001184.4:c.2878_2879insAGTAA (Human Genome Variation Society nomenclature#NM_001184.4:c.2878_2879insAGTAA)

component

code: Transcript reference sequence [ID] (LOINC#51958-7)

value: NM_001184.4 (Gene Reference Sequence Collection#NM_001184.4)

component

code: Feature Consequence (To Be Determined Codes#feature-consequence)

value: frameshift_variant (sequenceontology.org#SO:0001589)

component

code: Functional Effect (To Be Determined Codes#functional-effect)

value: loss_of_function_variant (sequenceontology.org#SO_0002054)