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Central Dogma & Molecular Genetics
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Question 1
A synonymous variant (c.300G>A, p.Thr100=) is identified in a patient with an unexplained genetic condition. Which of the following is the most accurate statement about this variant?
A
Synonymous variants cannot cause disease because the amino acid sequence is unchanged
B
This variant should be classified as Benign (B) under ACMG/AMP criteria without further analysis
C
The variant may affect splicing by disrupting an exonic splicing enhancer (ESE) and warrants RNA-level functional assessment
D
Synonymous variants only affect translation rate and have no impact on mRNA stability
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