Table 4.
Pathogenicity classification using ACMG criteria
| Variant | Population data | Predictive data | Functional data | Segregation data | De novo data | Allelic data | Reputable database* | References |
|---|---|---|---|---|---|---|---|---|
| Pathogenic/likely pathogenic | ||||||||
| APC c.1884_1885del | PM2 | PVS1 | NA | NA | NA | NA | NA | |
| APC c.3921_3925del | PM2 | PVS1 | PM1 | NA | NA | NA | PP5 | |
| APC c.4615delT | PM2 | PVS1 | NA | NA | NA | NA | NA | |
| APC c.3928A>T | PM2 | PVS1 | PM1 | NA | NA | NA | NA | |
| MUTYH c.857G>A | PM2 | PP3 | PS3 | NA | NA | NA | PP5 | |
| MUTYH c.934-2A>G | BS1 | PVS1 | PS3 | NA | NA | NA | PP5 | |
| ATM c.477_481delATCTC | PM2 | PVS1 | NA | NA | NA | NA | PP5 | |
| BRCA2 c.9154C>T | PM2 | PP3 | PS3 | NA | NA | NA | PP5 | |
| NTHL1 c.793G>A | PM2 | PP3 | PM1 | NA | NA | NA | NA | |
| PALB2 c.1059delA | PM2 | PVS1 | NA | NA | NA | NA | PP5 | |
| WRN c.499_500delAA | PM2 | PVS1 | PM1 | NA | NA | NA | NA | |
| VUS | ||||||||
| BRCA2 c.440A>G | PM2 | NA | NA | NA | NA | NA | NA | (45) |
*Variants were assessed for pathogenicity using ClinVar archives, Mastermind search engine by Genomenon, and genetic databases such as the Leiden Open Variation Database (LOVD), BRCA Exchange, InSiGHT, and ARUP MEN2 database. VUS = variants of uncertain significance.