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MMLU-Pro / 6687 / A 10-year-old girl is brought to the office by her mother because her school…

Problem

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question

A 10-year-old girl is brought to the office by her mother because her school nurse thinks that she may have Marfan syndrome. She is at the 95th percentile for height and 25th percentile for weight. Physical examination shows a narrow palate with dental crowding, long slender extremities, and joint laxity. Molecular testing for FBN1 shows a single nucleotide difference that does not change the amino acid at that locus. Her mother is 163 cm (5 ft 4 in) tall. There is no clinical evidence of Marfan syndrome in the mother, but she has the same single nucleotide change as the patient. The same nucleotide change is found in 15 of 200 individuals without Marfan syndrome. Which of the following best describes the single nucleotide change in the patient and her mother?

category

health

options

  1. It is a disease-causing mutation in the patient and her mother
  2. It is a polymorphism
  3. It is a sequence variant of unknown significance
  4. It will change the folding of the protein

src

ori_mmlu-professional_medicine

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Source and history

upstream_id / Original problem ID
6687
task_id
a9243093-d02d-571b-a47e-66f1c700cb65
task_key
default--test--6687
task_revision_id
1
config / split
default / test

Official source

initial import