ArticleGenetics in medicine open2024
Copy-number variants in the ACMG secondary finding genes: A reporting framework for clinical cytogeneticists.
Article in Genetics in medicine open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- The biomedical landscape of genomic structural variation in the qatari population.Nature communications · 2026Article
- ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing.Journal of human genetics · 2025Article
- Patients with Papillary Renal Cancer and Germline Duplication ofBiomedicines · 2025Article
- Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.European journal of human genetics : EJHG · 2024Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: To determine the pathogenicity and frequency of copy-number variants (CNV) in the 81 secondary finding (SFv3.2) genes recommended by the American College of Medical Genetics and Genomics (ACMG). Methods: Review of published evidence on pathogenicity of partial or complete copy-number losses or gains in ACMG SFv3.2 was performed. Frequency of reportable CNVs in the ACMG SFv3.2 genes was investigated among 10,959 patients tested by chromosomal microarray analysis in a single academic testing laboratory at the University of Pittsburgh Medical Center during 2011 to 2023. Results: We identified 58 ACMG SFv3.2 genes for which sufficient evidence supports reporting of partial or complete copy-number losses as secondary findings. On the contrary, reporting of copy-number gains was not supported by evidence in any of the ACMG SFv3.2 genes. Overall, CNVs in SFv3.2 genes were detected in 32 of 10,959 (0.29% or 1 in 343) patients in our cohort. Conclusion: This study provides a framework for consistent reporting of CNVs, detected by chromosomal microarray analysis, exome, or genome sequencing, in any of the ACMG SFv3.2 genes. To our knowledge, this is the largest cohort of patients studied for estimation of frequency of reportable CNVs in the ACMG SFv3.2 genes.
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