status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Patient/example-patient

effective: 2026-08-15

performer: Organization/igene-laboratory

value: Present

method: Sequencing

component

code: Gene studied [ID]

value: BRCA1

component

code: Genomic source class [Type]

value: Germline

component

code: Genomic reference sequence [ID]

value: NC_000017.10

component

code: Genomic coordinate system [Type]

value: 1-based character counting

component

code: Genomic ref allele [ID]

value: TCT

component

code: Genomic alt allele [ID]

value: T

component

code: DNA change type

value: deletion

component

code: Transcript reference sequence [ID]

value: NM_007294.3

component

code: DNA change (c.HGVS)

value: NM_007294.3(BRCA1):c.68_69del

component

code: Amino acid change (pHGVS)

value: p.(Glu23ValfsTer17)

component

code: Genomic DNA change (gHGVS)

value: g.41276047_41276048del

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Origin of germline genetic variant [Type]

value: Maternal

component

code: Genomic allele start-end

value: 41276046-?

component

code: Sample variant allelic frequency

value: 0.33 decimal

component

code: Allelic state

value: heterozygous