Generate QR code
Open Access
Subscription Access
Hallmarks of clinical interpretation of single-gene CNVs
https://doi.org/10.25557/2073-7998.2025.06.62-63
Abstract
The detection of copy number variations (CNVs) of single genes using molecular genetic methods has created a need to develop an algorithm for their clinical interpretation. This report presents the main stages, features and complexities of interpreting the pathogenic significance of single-gene CNVs.
Supporting agencies: The work was supported by the theme of the state assignment (#122020300041-7).
About the Authors
A. A. Kashevarova
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
I. N. Lebedev
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
References
1. Brandt T., Sack L.M., Arjona D. et al. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020;22(2):336-344.
2. Lebedev I.N., Shilova N.V., Iourov I.Yu., et al. Rekomendatsii Rossiyskogo obshchestva meditsinskikh genetikov po khromosomnomu mikromatrichnomu analizu [Guidelines of the Russian Society of Medical Geneticists for Chromosomal Microarray Analysis]. Meditsinskaya genetika [Medical genetics] 2023; 22(10): 3-47. (In Russ.)
3. Database of Genomic Variants (DGV). URL: http://dgv.tcag.ca/dgv/app/home.
4. Database of genomic variation and phenotype in humans using Ensembl resources (DECIPHER). URL: https://www. deciphergenomics.org/.
5. CNV-ClinViewer. URL: https://cnv-clinviewer.broadinstitute.org/.
6. AutoCNV. URL: https://phoenix.bgi.com/autocnv/.
7. ClinGen CNV. URL: https://cnvcalc.clinicalgenome.org/redmine/projects/cnvcalc/cnv_calculator/selector.
8. Tolmacheva E.N., Kashevarova A.A., Fonova E.A., et al. Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders. Mol Cytogenet. 2025;18(1):3.
Review
For citations:
Kashevarova A.A., Lebedev I.N. Hallmarks of clinical interpretation of single-gene CNVs. Medical Genetics. 2025;24(6):62-63. (In Russ.) https://doi.org/10.25557/2073-7998.2025.06.62-63
Views:
10
Email this article 