identifier: ctdna9737383222-icnv1

status: Final

category: Genetics, Laboratory

code: Genetic variant assessment

subject: Rob LEEDS (official) Male, DoB: 1978-01-17 ( Medical record number)

effective: 2026-07-14 15:59:16+0000

performer: PractitionerRole

value: Present

method: Sequencing

component

code: Variant category

value: Intragenic Copy Number Variant

component

code: Gene studied [ID]

value: FBN1

component

code: Genomic source class [Type]

value: Germline

component

code: Genomic reference sequence [ID]

value: NC_000015.9

component

code: Genomic coordinate system [Type]

value: 1-based character counting

component

code: Genomic ref allele [ID]

value: C

component

code: Genomic alt allele [ID]

value: <DEL>

component

code: DNA change type

value: copy_number_variation

component

code: Transcript reference sequence [ID]

value: NM_000138.4

component

code: DNA change (c.HGVS)

value: NM_000138.4(FBN1):exon13_to_exon15del

component

code: Genomic DNA change (gHGVS)

value: g.48797222_48802366del

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Origin of germline genetic variant [Type]

value: Maternal

component

code: Structural variant inner start and end

value: 48797221-48802366

component

code: Sample variant allelic frequency [NFr]

value: 0.33 decimal

component

code: Genomic structural variant copy number

value: 1 1 (Details: UCUM code1 = '1')