Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”

PURPOSE: Guidelines for variant interpretation incorporate variant hotspots in critical functional domains as evidence for pathogenicity (e.g., PM1 and PP2), but do not use “coldspots,” that is, regions without essential functions that tolerate variation, as evidence a variant is benign. To improve...

Descripción completa

Detalles Bibliográficos
Autores principales: Dines, Jennifer N., Shirts, Brian H., Slavin, Thomas P., Walsh, Tom, King, Mary-Claire, Fowler, Douglas M., Pritchard, Colin C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200594/
https://www.ncbi.nlm.nih.gov/pubmed/31911673
http://dx.doi.org/10.1038/s41436-019-0740-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200594/
https://www.ncbi.nlm.nih.gov/pubmed/31911673
http://dx.doi.org/10.1038/s41436-019-0740-6

Ejemplares similares