Table 3 Combined class based on functional (A) and clinical (B) grading.
From: Stepwise ABC system for classification of any type of genetic variant
A + B class | Grading combinations | Group | Examples of reporting recommendations (policy dependent) |
|---|---|---|---|
0 | Functional grade 0–2 | 0–2 | Not reported—clinical grading unnecessary |
F | Functional 3 + clinical 0 | 3 | Not reported if the gene in question is unlikely to be related to the phenotype |
E | 3 + 1/3 + 2/4 + 0/4 + 1/5 + 0 | 4–5 | Variant-of-interest (VOI) group: reporting optional: single variant of potential interest in a gene that could be related to the phenotype (dominant or recessive) |
D | 3 + 3/4 + 2/4 + 3/5 + 1/5 + 2 | 6–7 | Low penetrance and good candidate group: reporting usually recommended |
C | 4 + 4/5 + 3 | 8 | Pathogenic: disease-associated variant, always reported |
B | 4 + 5/5 + 4 | 9 | Pathogenic: disease-associated variant of moderate penetrance |
A | 5 + 5 | 10 | Pathogenic: disease-associated variant of high penetrance |
X | Functional 3–5 + clinical 2–5 | Secondary finding/incidental finding/opportunistic finding |
