Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
Generated Narrative: Observation
Resource Observation "STAG2-insertion-var"
Profile: Variant
status: final
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic var assess (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 (LOINC#48005-3)
value: NP_006594.3:p.S1178* (Human Genome Variation Society nomenclature#NP_006594.3:p.S1178*)
component
code: Transcript ref sequence ID (LOINC#51958-7)
value: NM_006603.5 (Gene Reference Sequence Collection#NM_006603.5)
component
code: Allelic read depth (LOINC#82121-5)
value: 88 reads per base pair (Details: UCUM code 1 = '1')
component
code: DNA Change Type (LOINC#48019-4)
value: insertion (sequenceontology.org#SO:0000667)
component
code: DNA change (LOINC#48004-6)
value: NM_006603.5:c.3530_3531insGTGACTATTAATAT (Human Genome Variation Society nomenclature#NM_006603.5:c.3530_3531insGTGACTATTAATAT)
component
code: Gene studied ID (LOINC#48018-6)
value: STAG2 (HUGO Gene Nomenclature Committee Genes#HGNC:11355)
component
code: Alt allele (LOINC#69551-0)
value: GTGACTA
component
code: Chromosome Bld/T (LOINC#48000-4)
value: Chromosome X (LOINC#LA21276-3)
component
code: Gen allele loc ID (LOINC#81254-5)
value: 123227930-123227930
component
code: Genomic reference sequence ID (LOINC#48013-7)
value: NC_000023.10 (Gene Reference Sequence Collection#NC_000023.10)
component
code: Struct var HGVS name (LOINC#81290-9)
value: NC_000023.10:g.123227930_123227931insGTGACTATTAATAT (Human Genome Variation Society nomenclature#NC_000023.10:g.123227930_123227931insGTGACTATTAATAT)
component
code: Genomic source class (LOINC#48002-0)
value: Somatic (LOINC#LA6684-0)
component
code: Sample VAF (LOINC#81258-6)
value: 0.08 decimal