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: NOTCH1-uncertain-var

Generated Narrative: Observation

Resource Observation "NOTCH1-uncertain-var"

Profile: Variant

status: final

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

code: Genetic variant assessment (LOINC#69548-6)

subject: Patient/somaticPatient " HAMSBURG"

effective: 2023-02-01

performer: Practitioner/pathologistPractitioner " DOLIN"

value: Present (LOINC#LA9633-4)

method: Sequencing (LOINC#LA26398-0)

component

code: Amino acid change (pHGVS) (LOINC#48005-3)

value: NP_060087.3:p.A1931T (Human Genome Variation Society nomenclature#NP_060087.3:p.A1931T)

component

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

value: NM_017617.5 (Gene Reference Sequence Collection#NM_017617.5)

component

code: Allelic read depth (LOINC#82121-5)

value: 221 reads per base pair (Details: UCUM code 1 = '1')

component

code: DNA change (c.HGVS) (LOINC#48004-6)

value: NM_017617.5:c.5791G>A (Human Genome Variation Society nomenclature#NM_017617.5:c.5791G>A)

component

code: Gene studied [ID] (LOINC#48018-6)

value: NOTCH1 (HUGO Gene Nomenclature Committee Genes#HGNC:7881)

component

code: Genomic alt allele [ID] (LOINC#69551-0)

value: T

component

code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method (LOINC#48000-4)

value: Chromosome 9 (LOINC#LA21262-3)

component

code: Genomic allele start-end (LOINC#81254-5)

value: 139395147-139395147

component

code: Genomic reference sequence [ID] (LOINC#48013-7)

value: NC_000009.11 (Gene Reference Sequence Collection#NC_000009.11)

component

code: Genomic ref allele [ID] (LOINC#69547-8)

value: C

component

code: Genomic DNA change (gHGVS) (LOINC#81290-9)

value: NC_000009.11:g.139395147C>T (Human Genome Variation Society nomenclature#NC_000009.11:g.139395147C>T)

component

code: Genomic source class [Type] (LOINC#48002-0)

value: Somatic (LOINC#LA6684-0)

component

code: Sample variant allelic frequency [NFr] (LOINC#81258-6)

value: 0.15 decimal