Mikael Häggström [notes 1]
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:
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?
- brca Ala1708Val
- brca c.5123C>T
- c.5123C>T (p.Ala1708Val)
Click [Show] to see answer
3. brca Ala1708Val
ClinVar mainly searches by amino acid change (in this case an alanine to valine at position 1708) of the protein (p.). The other entries (including cDNA change of cytosine to thymine at position 5123) show a list of results, where it may take substantial time to find the variant at hand.
- ↑ For a full list of contributors, see article history. Creators of images are attributed at the image description pages, seen by clicking on the images. See Patholines:Authorship for details.