Fig. 5: Decision tree to assist in the interpretation of predicted loss-of-function variants according to American College of Medical Genetics and Genomics (ACMG) guidelines based on functional data presented in this paper. | Genetics in Medicine

Fig. 5: Decision tree to assist in the interpretation of predicted loss-of-function variants according to American College of Medical Genetics and Genomics (ACMG) guidelines based on functional data presented in this paper.

From: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

Fig. 5

Additional data and considerations are needed to determine the appropriate strength of the PS3/BS3 criteria as stated in Brnich et al.33HDR homology directed repair.

Back to article page