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Questions and Answers
What is one way to determine if a variant is considered to be benign?
What is one way to determine if a variant is considered to be benign?
- If the allele frequency in a control population is greater than expected
- If the variant is absent from a large population database
- If the variant is observed in a healthy adult individual (correct)
- If the variant is observed in a healthy child
When determining if a variant is benign, what is considered to be important?
When determining if a variant is benign, what is considered to be important?
- The allele frequency in a control population
- The size of the population database (correct)
- The age of the individual
- The race of the individual
What is NOT a factor when determining if a variant is benign?
What is NOT a factor when determining if a variant is benign?
- The allele frequency in a control population
- The size of the population database
- The age of the individual
- Whether the variant is observed in a healthy adult (correct)
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Study Notes
- A variant is considered to be benign if the allele frequency in a control population is greater than expected.
- If a variant is absent from (or at extremely low frequency in) a large (and adequately race-matched) population database, then the variant is considered to be benign.
- For a condition that is fully penetrant at an early age, if the variant is observed in a healthy adult individual, then the variant is considered to be benign.
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