HGVS Nomenclature Quiz
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Questions and Answers

What nucleotide is considered as nucleotide 1 in coding DNA?

  • The first nucleotide of the stop codon
  • The A of the ATG translation starting codon (correct)
  • The first nucleotide of an intron
  • The last nucleotide of the previous exon

    • How is nucleotide numbering performed for nucleotides before the starting codon?

  • They are counted normally starting from 1
  • They are excluded from numbering
  • They are given negative values starting from -1 (correct)
  • They follow the same plus count as exons

    • Which notation correctly describes the beginning of an intron?

  • c.88+2T>G (correct)
  • c.*1T>C
  • c.88G>A
  • c.88-2T>G

    • What indicates the first nucleotide of a stop codon in HGVS nomenclature?

    <p>*1</p> Signup and view all the answers

    In intron numbering, what notation is used to indicate a position upstream from the first nucleotide of the following exon?

    <p>c.89-1</p> Signup and view all the answers

    What is the primary reason for using a standardized mutation nomenclature system?

    <p>To ensure efficient and accurate reporting</p> Signup and view all the answers

    Which description is correct for a coding DNA sequence variant using HGVS nomenclature?

    <p>c.76A&gt;T</p> Signup and view all the answers

    What does the notation 'del' signify in HGVS nomenclature?

    <p>A deletion variant</p> Signup and view all the answers

    What character is used to indicate a substitution at the DNA level in HGVS nomenclature?

    <blockquote> </blockquote> Signup and view all the answers

    Which of the following is a characteristic of very rare variants?

    <p>Often associated with recent mutations</p> Signup and view all the answers

    In HGVS nomenclature, how would you denote a variant involving a duplication?

    <p>c.76dupA</p> Signup and view all the answers

    Which of these components is NOT always included in HGVS nomenclature?

    <p>Gene name</p> Signup and view all the answers

    What does the notation 'c.76_78delACT' indicate?

    <p>A deletion of nucleotides between positions 76 and 78</p> Signup and view all the answers

    What are non-synonymous variants known to do?

    <p>Change the amino acid sequence of the resulting protein</p> Signup and view all the answers

    Which type of genetic variant is characterized by the addition or removal of nucleotides?

    <p>Insertions and Deletions (Indels)</p> Signup and view all the answers

    What is the frequency classification for a variant with a population prevalence of less than 1%?

    <p>Rare Variants</p> Signup and view all the answers

    Which type of variant is most likely to be benign or non-pathogenic?

    <p>Common Variants</p> Signup and view all the answers

    What do Structural Variants generally involve?

    <p>Larger-scale genomic alterations</p> Signup and view all the answers

    What type of variants can arise from mutations in somatic cells?

    <p>Somatic Variants</p> Signup and view all the answers

    How are Copy Number Variants (CNVs) classified?

    <p>In terms of the number of gene copies or regions</p> Signup and view all the answers

    What is a characteristic of Low Frequency Variants?

    <p>Average population frequency between 1% and 5%</p> Signup and view all the answers

    What is the primary component of DNA?

    <p>Nucleotides</p> Signup and view all the answers

    Which of the following correctly describes genetic variation?

    <p>It results from the difference in DNA sequences within a population.</p> Signup and view all the answers

    What type of genetic disorder follows Mendelian inheritance patterns?

    <p>Single-gene disorders</p> Signup and view all the answers

    Which of the following is an example of a complex disease?

    <p>Heart disease</p> Signup and view all the answers

    What are single nucleotide variants (SNVs)?

    <p>Changes in a single nucleotide in the DNA sequence.</p> Signup and view all the answers

    How do genetic variants classified as 'exonic' differ from 'intronic' variants?

    <p>Exonic variants occur within the coding region of a gene, while intronic variants occur in non-coding regions.</p> Signup and view all the answers

    What defines a carrier of the sickle cell trait?

    <p>Individuals who have one copy of the recessive sickle cell gene.</p> Signup and view all the answers

    What impact can genetic mutations causing sickle cell anemia have in relation to malaria?

    <p>They have a protective effect against malaria.</p> Signup and view all the answers

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