Generated Narrative: Observation ATR-insertion-var

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --> (ongoing)))

effective: 2023-02-01

performer: Practitioner Test Dolin

value: Present

method: Sequencing

component

code: Transcript reference sequence [ID]

value: NM_001184.4

component

code: Allelic read depth

value: 131 reads per base pair (Details: UCUM code1 = '1')

component

code: DNA change type

value: insertion

component

code: DNA change (c.HGVS)

value: NM_001184.4:c.2878_2879insAGTAA

component

code: Gene studied [ID]

value: ATR

component

code: Genomic alt allele [ID]

value: TTACT

component

code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method

value: Chromosome 3

component

code: Genomic allele start-end

value: 142269071-142269071

component

code: Genomic reference sequence [ID]

value: NC_000003.11

component

code: Genomic DNA change (gHGVS)

value: NC_000003.11:g.142269071_142269072insTTACT

component

code: Genomic source class [Type]

value: Somatic

component

code: Sample variant allelic frequency [NFr]

value: 0.075 decimal

component

code: Conclusion Text

value: Gene: ATR; Exon: 14; Nucleotide: NM_001184.4:c.2878_2879insAGTAA; Genomic Location: NC_000003.11:g.142269071_142269072insTTACT; Amino acid: NP_001175.2:p.R960fs*2; Function: loss; Assessment: Likely Pathogenic; Classification: Tier 2C; Allele Fraction: 5.34% (of 131 reads); Variation: Insertion; Interpretation: The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved ... more