Evolving Foundations

How Did the Variant Get Its Name? Understanding Gene and Variant Nomenclature

Patricia Friend

Suzanne M. Mahon
genomics, biomarker test report, variant, nomenclature, taxonomy, gene
CJON 2023, 27(3), 251-254. DOI: 10.1188/23.CJON.251-254

Genomics is foundational to precision oncology. Oncology nurses regularly review germline and somatic biomarker testing reports. The taxonomy and nomenclature of biomarker results have evolved. Accurate understanding and interpretation of germline and somatic genomic results are essential for safe patient care and patient education. This article reviews common variant nomenclature on genomic biomarker reports, including gene and variant location, coding data, information about protein function, and common DNA errors. This review includes examples of common variant types, such as insertions, deletions, duplications, and substitutions, and implications for nursing practice.

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