Genetics questions

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Author: Mikael Häggström [note 1]

ClinVar

For a 34 year old female (with two relatives diagnosed with breast cancer under the age of 45) has genetic testing done for BRCA mutations, resulting in the following variant:
(BRCA1):c.5123C>T (p.Ala1708Val)

You now want to search ClinVar (at www.ncbi.nlm.nih.gov/clinvar) whether this mutation is pathogenic or not. What do you enter in the search field in order to get a specific entry for that genetic variation?

  1. c.5123C>T
  2. Ala1708Val
  3. brca Ala1708Val
  4. brca c.5123C>T
  5. c.5123C>T (p.Ala1708Val)
Click [Show] to see answer
Correct answer: 3. brca Ala1708Val
ClinVar mainly searches by amino acid change (in this case an alanine to valine at position 1708. The other entries show a list of results, where it may take substantial time to find the variant at hand.


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