Table 6.
New and existing combinations of exponent scores potentially leading to overall CanVIG-UK variant classifications
| 2015 ACMG framework assignation of variant class | Exponent score of evidence elements | Exponent sum | CanVIG-UK assignation of variant class |
| Towards pathogenicity: 8 (very strong), 4 (strong), 2 (moderate), 1 (supporting); towards benignity: −4 (strong), −1 (supporting) | |||
| Pathogenic (ia) | 8+4 | 12 | Pathogenic (ia) |
| Pathogenic (ib) | 8+2+2 | 12 | Pathogenic (ib) |
| Pathogenic (ic) | 8+2+1 | 11 | Pathogenic (ic) |
| Pathogenic (id) | 8+1+1 | 10 | Pathogenic (id) |
| L/pathogenic (i) | 8+2 | 10 | Pathogenic (ie) |
| Pathogenic (iiia) | 4+2+2+2 | 10 | Pathogenic (iia) |
| Pathogenic (iiib) | 4+2+2+1+1 | 10 | Pathogenic (iib) |
| Pathogenic (iiic) | 4+2+1+1+1+1 | 10 | Pathogenic (iic) |
| Not included | 4+4+2 | 10 | Pathogenic (iiia) |
| Not included | 4+4+1+1 | 10 | Pathogenic (iiib) |
| Not included | 2+2+2+2+2 | 10 | Pathogenic (iv) |
| Not included | 2+2+2+2+1+1 | 10 | Pathogenic (v) |
| Not included | 2+2+2+1+1+1+1 | 10 | Pathogenic (vi) |
| Not included | 2+2+1+1+1+1+1+1 | 10 | Pathogenic (vii) |
| Not included | 2+1+1+1+1+1+1+1+1 | 10 | Pathogenic (viii) |
| Not included | 1+1+1+1+1+1+1+1+1+1 | 10 | Pathogenic (viii) |
| Pathogenic (ii) | 4+4 | 8 | L/pathogenic (v) |
| L/pathogenic (ii) | 4+2 | 6 | L/pathogenic (i) |
| L/pathogenic (iii) | 4+1+1 | 6 | L/pathogenic (ii) |
| L/pathogenic (iv) | 2+2+2 | 6 | L/pathogenic (iii) |
| L/pathogenic (v) | 2+2+1+1 | 6 | L/pathogenic (iv) |
| L/pathogenic (vi) | 2+1+1+1+1 | 6 | L/pathogenic (vi) |
| Not included | 8+1 | 9 | L/pathogenic (vii) |
| Not included | 8 | 8 | N/A: single evidence element |
| Not included | 1+1+1+1+1+1 | 6 | L/pathogenic (viii) |
| L/benign (i) | (−1)+(−4) | -5 | L/benign (i) |
| L/benign (ii) | (−1)+(−1) | -2 | L/benign (ii) |
| Not included | (−1) | -1 | N/A: single evidence element |
| Not included | (−4) | -4 | N/A: single evidence element |
| Benign (i) | (−4)+(−4) | -8 | Benign (i) |
Classifications in dark grey are those present in the 2015 ACMG framework that are inconsistent with the Tavtigian Bayesian metastructure, and those in light grey are new combinations generated using the exponent scoring system.
ACGS, Association for Clinical Genomic Science; ACMG, American College of Medical Genetics; CanVIG-UK, Cancer Variant Interpretation Group UK; L, likely; N/A, not applicable.