ACMG Secondary Finding (SF) Genes

The American College of Medical Genetics and Genomics (ACMG) has compiled a list of SF genes, for which specific mutations are known to be causative of disorders with defined phenotypes that are clinically actionable by an accepted intervention. The ACMG recommends that variants detected in any of these genes by a method such as whole exome or whole genome sequencing be reported, as they are of medical relevance and could be used in the future to inform clinical treatment.

The NIGMS Repository has many samples bearing characterized mutations within the genes on this list. These samples serve as a resource to investigators studying these common variants in clinically significant genes.  Please use the table below to browse genes and NIGMS samples of interest.

The NIGMS Repository is seeking to expand their available resources, and we are looking to include in our collections samples that have characterized mutations in the genes in this list. If you or your collaborators would be interested in making biospecimens with mutations in one or more ACMG SF Genes available to the research community, please contact us at NIGMS@coriell.org.

* indicates that samples are not currently available from the catalog

Additional Resources:

• ACMG SF gene list via NCBI: https://www.ncbi.nlm.nih.gov/clinvar/docs/acmg/
  
  
• What are secondary findings?: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
  
  
• ACMG SF v3.2 (ACMG 81 Genes)
  "ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)"
  

  https://pubmed.ncbi.nlm.nih.gov/37347242/
  https://www.gimjournal.org/article/S1098-3600(23)00879-1/fulltext
  
  

• ACMG SF v3.1 (ACMG 78 Genes)
  "ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)"
  

  https://pubmed.ncbi.nlm.nih.gov/35802134/
  https://www.gimjournal.org/article/S1098-3600(22)00723-7/fulltext
  

  
  
• ACMG SF v3.0 (ACMG 73 Genes)
  "ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)"
  https://pubmed.ncbi.nlm.nih.gov/34012068/
  https://www.nature.com/articles/s41436-021-01172-3
  https://www.nature.com/articles/s41436-021-01278-8
  https://www.acmg.net/PDFLibrary/41436_2021_1172_OnlinePDF-1.pdf
  
  
• ACMG SF v2.0 (ACMG 59 Genes)
  "Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics"
  https://pubmed.ncbi.nlm.nih.gov/27854360/
  https://www.nature.com/articles/gim2016190
  
  
• ACMG SF v1.0
  "ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing"
  https://pubmed.ncbi.nlm.nih.gov/23788249/
  https://www.nature.com/articles/gim201373
  
  

*Note: this page has been updated to reflect ACMG SF v3.2 which included 8 additional genes to list of 73 genes from v3.0 (BAG3, DES, RBM20, TNNC1, TTR, CALM1, CALM2 and CALM3). This is an up-to-date version of the ACMG SF Genes webpage.