Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. Brnich, S. E., Abou Tayoun, A. N., Couch, F. J., Cutting, G. R., Greenblatt, M. S., Heinen, C. D., Kanavy, D. M., Luo, X., McNulty, S. M., Starita, L. M., Tavtigian, S. V., Wright, M. W., Harrison, S. M., Biesecker, L. G., Berg, J. S., Abou Tayoun, A. N., Berg, J. S., Biesecker, L. G., Brenner, S. E., Cutting, G. R., Ellard, S., Greenblatt, M. S., Harrison, S. M., Karbassi, I., Karchin, R., Mester, J. L., O’Donnell-Luria, A., Pesaran, T., Plon, S. E., Rehm, H., Tavtigian, S. V., Topper, S., & On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group Genome Medicine, 12(1):3, December, 2019. ![Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper doi abstract bibtex The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evidence codes PS3 and BS3 for “well-established” functional assays demonstrating a variant has abnormal or normal gene/protein function, respectively. However, they did not provide detailed guidance on how functional evidence should be evaluated, and differences in the application of the PS3/BS3 codes are a contributor to variant interpretation discordance between laboratories. This recommendation seeks to provide a more structured approach to the assessment of functional assays for variant interpretation and guidance on the use of various levels of strength based on assay validation.
@article{brnich_recommendations_2019,
title = {Recommendations for application of the functional evidence {PS3}/{BS3} criterion using the {ACMG}/{AMP} sequence variant interpretation framework},
volume = {12},
issn = {1756-994X},
url = {https://doi.org/10.1186/s13073-019-0690-2},
doi = {10.1186/s13073-019-0690-2},
abstract = {The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evidence codes PS3 and BS3 for “well-established” functional assays demonstrating a variant has abnormal or normal gene/protein function, respectively. However, they did not provide detailed guidance on how functional evidence should be evaluated, and differences in the application of the PS3/BS3 codes are a contributor to variant interpretation discordance between laboratories. This recommendation seeks to provide a more structured approach to the assessment of functional assays for variant interpretation and guidance on the use of various levels of strength based on assay validation.},
number = {1},
urldate = {2021-05-28},
journal = {Genome Medicine},
author = {Brnich, Sarah E. and Abou Tayoun, Ahmad N. and Couch, Fergus J. and Cutting, Garry R. and Greenblatt, Marc S. and Heinen, Christopher D. and Kanavy, Dona M. and Luo, Xi and McNulty, Shannon M. and Starita, Lea M. and Tavtigian, Sean V. and Wright, Matt W. and Harrison, Steven M. and Biesecker, Leslie G. and Berg, Jonathan S. and Abou Tayoun, Ahmad N. and Berg, Jonathan S. and Biesecker, Leslie G. and Brenner, Steven E. and Cutting, Garry R. and Ellard, Sian and Greenblatt, Marc S. and Harrison, Steven M. and Karbassi, Izabela and Karchin, Rachel and Mester, Jessica L. and O’Donnell-Luria, Anne and Pesaran, Tina and Plon, Sharon E. and Rehm, Heidi and Tavtigian, Sean V. and Topper, Scott and {On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group}},
month = dec,
year = {2019},
keywords = {Functional assays, Guidelines, Variant interpretation},
pages = {3},
}
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