varfish-org / varfish-server

VarFish: comprehensive DNA variant analysis for diagnostics and research
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ACMG Variant Classification for Class II is inaccurate #359

Closed xiamaz closed 2 years ago

xiamaz commented 2 years ago

Describe the bug Classifying a variant using benign criteria (BA/BS/BP) results in an wrong grade if 1 BS and 1 BP is used. According to Richards et al 2015 this should result in a likely benign classification, instead a variant of unknown significance is shown.

To Reproduce Steps to reproduce the behavior:

  1. Filter variants in a single case or open Variant Annotation tab in a single case.
  2. Click on 'singlevar-acmg-rating' button for a single variant.
  3. Check 1 BS and 1 BP box.
  4. Check the resulting automatic ACMG classification.

Expected behavior ACMG Class II should be shown in the automatic ACMG classification.

Screenshots If applicable, add screenshots to help explain your problem.

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xiamaz commented 2 years ago

The classification is currently set here: https://github.com/bihealth/varfish-server/blob/4e3d07784f41d0c8cc9cc9d57df16c63a84fe830/varfish/static/js/flags_comments.js#L478

Changing this line to use 2 BP or 1 BS & 1 BP should fix the issue.

holtgrewe commented 2 years ago

Thanks, good catch. Will fix ASAP.