There is a functional evaluation and clinical classification of the BRCA 2 variant

A study has revealed that a deep learning model could predict genome-wide variant effects using deep learning-derived scores. The model was developed using ACMG/AMP scoring rules for clinical classification of the BRCA2 SNVs. It predicted variant effects based on gene expression analysis and found that variants in the BRCA1 or BRCA2 are associated with breast, ovarian, pancreatic, and prostate cancer tumours.