Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Example Observation: SNVexample

Generated Narrative

Resource "SNVexample"

Profile: Variant

status: final

category: Laboratory (Observation Category Codes#laboratory)

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

value: Present (LOINC#LA9633-4)

method: Sequencing (LOINC#LA26398-0)

specimen:

component

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

value: AR (geneId#HGNC:644)

component

code: Cytogenetic (chromosome) location (LOINC#48001-2)

value: chrX ()

component

code: Human reference sequence assembly version (LOINC#62374-4)

value: GRCh37 (LOINC#LA14029-5)

component

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

value: Somatic (LOINC#LA6684-0)

component

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

value: p.(Ala412Val) (Human Genome Variation Society nomenclature#p.(Ala412Val))

component

code: Amino acid change type (LOINC#48006-1)

value: Missense (LOINC#LA6698-0)

component

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

value: NM_000044.3 (Gene Reference Sequence Collection#NM_000044.3)

component

code: Sample VAF (LOINC#81258-6)

value: 0.44 decimal

component

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

value: 120 reads per base pair (Details: UCUM code {reads}/{base} = '{reads}/{base}')