Exome sequencing finds a novel de novo variant in a known disease gene relevant to the patient's phenotype. In-silico tools conflicting. How is it

Question

Exome sequencing finds a novel de novo variant in a known disease gene relevant to the patient's phenotype. In-silico tools conflicting. How is it classified per ACMG?

Accepted Answer

Likely pathogenic – actionable

Answer

VUS – not actionable

Answer

Benign – not actionable

Answer

Likely benign

Answer

Pathogenic – actionable

Likely pathogenic – de novo — RACP Paediatrics MCQ

Exome sequencing finds a novel de novo variant in a known disease gene relevant to the patient's phenotype. In-silico tools conflicting. How is it classified per ACMG?