Introduction to ACMG Genetic Variant Classification

The American College of Medical Genetics (ACMG) has comprehensive but complex guidelines on how to classify human genetic variants, from benign to pathogenic. Learn how to use and apply these guidelines in your research or clinical testing, including common mistakes and how to adjust criteria strength.
Speaker: Diane Kolbe, PhD.
Iowa IIHG:
medicine.uiowa...
Iowa MORL:
morl.lab.uiowa...

[@weewweeho]

Thank you very much Dr. Kolbe this is a very useful and informative overview.

[@iowainstituteofhumangeneti7584]

You are very welcome

[@quantumchase]

I am currently studying Wilson Disease, and based on the literature I have gathered, there is no well-established genotype-phenotype association. Also, there are multiple mutations across all 21 exons of the ATP7B gene. But most of the literature also state that they are using ACMG guidelines for classifying variants. Any comment on that?

[@muffinman1]

BA1 is benign-standalone not benign-automatic. Its weight is so heavy that just that criteria itself can cause the variant to be considered benign as the name implies.

[@dianakolbe8944]

Yes, the formal name is benign stand-alone. In practice, unless dealing with a well-known and established high-frequency pathogenic variant such as the global exception list, if BA1 is satisfied, the variant can be automatically considered benign without considering other criteria.

[@laurencollen8543]

This was excellent -- are slides publicly available as implied at the end of the lecture?

[@iowainstituteofhumangeneti7584]

Lauren, I don't believe they are at this time. You could email Diana directly and ask for a copy.

[@0102murphy]

Is this just applied to gremlin variant? Can it be applied to somatic variant?