Genetics questions
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?
- c.5123C>T
- Ala1708Val
- brca Ala1708Val
- brca c.5123C>T
- 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.
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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