Molecular Nomenclature quiz

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Questions 10
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Difficulty Hard
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Two variants were found in an exon of a gene by NGS: 79 G to T and 80 C to T; the gnomAD frequency at 79 is 0.49 and at 80 is 0.001. Which of the following is more correct?

What single letter is used to denote any substitution of a nucleotide at a particular position? Example: c.54G, substituted by A, T or C.

True or False? The 3’ rule for determining the position of a nucleotide variant in a sequence has no exceptions.

Beginning at the position shown in the picture, seven nucleotides were deleted and replaced by the following sequence: CGGGTGA. Which of the following is correct nomenclature for this change?

The following variants were detected in MSH2: c.1340_1341insGG and c.1168C>T, phase unknown. The correct DNA nomenclature for these variants is:

One carrier parent has a p.Phe447Leufs and the other carrier parent has a p.Leu390Phe. Protein nomenclature for a child who has inherited the first mutation but not the second should be described as:

A G to T substitution is detected at the position shown. What is the DNA and protein nomenclature?

For an X linked gene in a female, an SNV is correctly described as c.[76A>C];[76A=]. What is the correct way to describe the same change in a male?

A result is described as: c.2376[G>C];[=]. This indicates which of the following?

A G>A substitution at c.1096 is found to be homozygous by Sanger sequencing. What is the most correct way of describing this finding?

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