HGVS Nomenclature Quiz

Changes in the DNA sequence that do not alter the amino acid sequence of the resulting protein.

Changes in the DNA sequence that alter the amino acid sequence of the resulting protein.

Insertions or deletions of nucleotides within a DNA sequence.

Variations in the number of copies of a particular gene or region of DNA.

Large-scale changes in DNA structure, such as duplications, inversions, or translocations.

Genetic variants present in all cells of the body from conception.

Genetic variants that occur in specific tissues or cells and are not inherited.

Genetic variants found in more than 5% of the population.

Differences in DNA sequences between individuals in a population.

Changes in the DNA sequence that can be harmful or beneficial.

Diseases caused by a change in a single gene, often following Mendelian inheritance patterns.

Common diseases caused by a combination of genetic and environmental factors.

Occur within genes and may directly affect their function or expression.

Found within the coding regions of genes, directly affecting the protein sequence.

Found within the non-coding, intron regions of genes.

Changes in a single nucleotide within the DNA sequence.

The first nucleotide of the starting codon (ATG) is designated as nucleotide 1. Subsequent nucleotides are numbered consecutively within the coding sequence.

Nucleotide positions before the ATG start codon are numbered with negative values. For example, the nucleotide immediately before the start codon is c.-1.

Nucleotide positions within an intron are numbered relative to the flanking exon. The first nucleotide after an exon is c.+1, and the last nucleotide before an exon is c.-1.

The first nucleotide of the stop codon is designated as c.*1. Subsequent nucleotides are numbered sequentially with asterisks. For example, the second nucleotide of the stop codon is c.*2.

This notation describes a variant in the beta-globin gene, indicating that the nucleotide at position 112 after the stop codon has changed from A to G.

A variation in DNA sequence that occurs in less than 1% of the population. These variants may have no impact, may be harmless, or may lead to disease.

The most difficult rare variants to interpret because there's limited data about their effects. They might be recent mutations or simply haven't been studied enough.

A standardized system for describing DNA variations. It ensures consistency and accuracy in reporting genetic changes.

A system for describing DNA changes based on DNA sequence. It uses specific letters and codes to represent different types of variations.

Indicates a substitution at the DNA level, meaning one DNA base is replaced with another. Example: c.76A>T

Indicates a range of affected residues, meaning a section of DNA bases is changed. Example: c.76_78delACT

Indicates a deletion at the DNA level, meaning a DNA base is removed. Example: c.76delA

Indicates a duplication at the DNA level, meaning a DNA base is repeated. Example: c.76dupA