Table 7.
Clinical performance of ONCOgenics Germline™
| Test ID | Pathogenic mutations | Likely pathogenic mutations | DM‐Controversial mutations | Other VUS |
|---|---|---|---|---|
| ONCOG.001 | None | None | None | ATM c.998C>T; p.S333F (Het.) |
| CDH1 c.‐54G>C (Het.) | ||||
| ONCOG.002 | CDKN2A c.176T>G; p.V59G (Het.) | None | None | BRCA2 c.4258G>T; p.D1420Y (Het.) |
| PTCH2 c.1073G>A; p.R358H (Het.) | ||||
| SUFU c.1018G>T; p.A340S (Het.) | ||||
| ONCOG.003 | None | None | None | BRCA1 c.4883T>C; p.M1628T (Het.) |
| BRCA2 c.4258G>T; p.D1420Y (Het.) | ||||
| FANCM c.1667A>G; p.D556G (Het.) | ||||
| PTCH2 c.1073G>A; p.R358H (Het.) | ||||
| ONCOG.004 | None | None | BRCA2 c.7008‐62A>G (Het.) | CDH1 c.‐54G>C (Het.) |
| SDHD c.149A>G; p.H50R (Het.) | ||||
| ONCOG.005 | None | None | FANCA c.3348 + 18A>G (Het.) | None |
| ONCOG.006 | None | None | None | FANCA c.932T>C; p.I311T (Het.) |
| FANCI c.1573A>G; p.M525V (Het.) | ||||
| MUTYH c.1258C>A; p.L420M (Het.) | ||||
| NF1 c.7259‐17C>T (Het.) | ||||
| ONCOG.007 | None | None | FANCA c.3348 + 18A>G (Het.) | ATM c.2119T>C; p.S707P (Het.) |
| AXIN2 c.1685C>T; p.P562L (Het.) | ||||
| BRCA1 c.2890G>A; p.G964R (Het.) | ||||
| FANCB c.2395G>A; p.A799T (Het.) | ||||
| FANCD2 c.3127G>A; p.G1043S (Het.) | ||||
| ONCOG.008 | None | None | None | ATM c.998C>T; p.S333F (Het.) |
| FANCM c.5177C>T; p.P1726L (Het.) | ||||
| ONCOG.009 | None | None | MC1R c.464T>C; p.I155T (Het.) | FANCD2 c.3275A>G; p.H1092R (Het.) |
| TSC2 c.5383C>T; p.R1795C (Het.) | POLD1 c.189G>T; p.E63D (Het.) | |||
| SLX4 c.5501A>G; p.N1834S (Het.) | ||||
| ONCOG.010 | None | None | None | FANCM c.3857G>T; p.S1286I (Het.) |
| MSH6 c.*20_*24del (Het.) | ||||
| ONCOG.011 | None | None | KIT c.67 + 4G>A (Het.) | PMS2 c.1688G>T; p.R563L (Het.) |
| SDHD c.34G>A; p.G12S (Het.) | ||||
| SUFU c.1018G>T; p.A340S (Het.) | ||||
| ONCOG.012 | None | None | None | MLH1 c.1852_1853delAAinsGC; p.K618A (Het.) |
| ATM c.2519A>T; p.D840V (Het.) | ||||
| FLCN c.979G>A; p.A327T (Het.) | ||||
| ONCOG.013 | None | None | ATM c.1810C>T;p.P604S (Het.) | ATM c.6067G>A; p.G2023R (Het.) |
| ONCOG.014 | None | RET c.1529C>T; p.A510V (Het.) | MET c.504G>T; p.E168D (Het.) | |
| SDHD c.34G>A; p.G12S (Het.) | ||||
| FANCA c.3348 + 18A>G (Het.) | POLE c.2090C>G; p.P697R (Het.) | |||
| BRCA1 c.3083G>A; p.R1028H (Het.) | ||||
| ONCOG.015 | None | None | None | None |
| ONCOG.016 | None | None | ATM c.1744T>C; p.F582L (Het.) | BARD1 c.2212A>G; p.I738V (Het.) |
| BMPR1A c.478A>G; p.M160V (Het.) | ||||
| CHEK2 c.254C>T; p.P85L (Het.) | ||||
| ONCOG.017 | None | None | None | FANCF c.557C>T; p.A186V (Het.) |
| PALB2 c.2590C>T; p.P864S (Het.) | ||||
| POLD1 c.2317G>A; p.A773T (Het.) | ||||
| SUFU c.1018G>T; p.A340S (Het.) | ||||
| ONCOG.018 | None | None | None | None |
| ONCOG.019 | None | None | FANCA c.3348 + 18A>G (Het.) | BRIP1 c.584T>C; p.L195P (Het.) |
| SLX4 c.710G>A; p.R237Q (Het.) | ||||
| SLX4 c.4597G>C; p.A1533P (Het.) | ||||
| ONCOG.020 | None | None | None | ATM c.8560C>T; p.R2854C (Het.) |
| EPCAM c.488G>A; p.R163Q (Het.) | ||||
| ONCOG.021 | None | None | RET c.2531G>A p.R844Q (Het.) | BARD1 c.2212A>G; p.I738V (Het.) |
| BRIP1 c.3275C>A; p.P1092Q (Het.) | ||||
| MUTYH c.950T>C; p.L317P (Het.) | ||||
| ONCOG.022 | None | None | None | ATM c.2572T>C; p.F858L (Het.) |
| FANCA c.1870G>T; p.A624S (Het.) | ||||
| FANCC c.29G>A; p.C10Y (Het.) | ||||
| PTCH2 c.1073G>A; p.R358H (Het.) | ||||
| SDHD c.34G>A; p.G12S (Het.) | ||||
| ONCOG.023 | None | FANCM c.4005dupA; p.V1336Sfs*8 (Het.) | None | ATM c.2119T>C; p.S707P (Het.) |
| BAP1 c.1769A>T; p.Q590L (Het.) | ||||
| BRCA1 c.591C>T; p.C197C (Het.) | ||||
| CDH1 c.532‐18C>T (Het.) | ||||
| FANCC c.77C>T; p.S26F (Het.) | ||||
| PALB2 c.2590C>T; p.P864S (Het.) | ||||
| PTCH1 c.505G>A; p.V169I (Het.) | ||||
| ONCOG.024 | NF1 c.2033dupC; p.I679Dfs*21 (Mosaic) | None | None | FANCA c.3099C>A; p.D1033E (Het.) |
| BRCA1 c.3929C>A; p.T1310K (Het.) | ||||
| ONCOG.025 | BARD1 c.1075_1095del; p.L359_P365del (Het.) | FANCM c.3857G>T; p.S1286I (Het.) | ||
| MC1R c.252C>A; p.D84E (Het.) | ||||
| cdkn2ai3 c.187G>C; p.G63R (Het.) | PALB2 c.2590C>T; p.P864S (Het.) | |||
| PALB2 c.232G>A; p.V78I (Het.) | ||||
| ONCOG.026 | None | None | None | FANCA c.3099C>A; p.D1033E (Het.) |
| ONCOG.027 | None | None | None | BRCA1 c.3708T>G; p.N1236K (Het.) |
| FANCC c.584A>T; p.D195V (Het.) | ||||
| FANCI c.3812C>T; p.S1271F (Het.) | ||||
| FANCM c.4931G>A; p.R1644Q (Het.) | ||||
| MSH6 c.100G>T; p.A34S (Het.) | ||||
| ONCOG.028 | None | None | SLX4 c.421G>T; p.G141W (Het.) | BRCA2 c.68‐7T>A (Het.) |
| ONCOG.029 | None | None | None | MET c.504G>T; p.E168D (Het.) |
| SDHD c.149A>G; p.H50R (Het.) | ||||
| ONCOG.030 | None | None | ATM c.1810C>T; p.P604S (Het.) | BRCA1 c.4039A>G; p.R1347G (Het.) |
| TSC2 c.1577G>A; p.S526N (Het.) | ||||
| ONCOG.031 | None | None | FANCA c.4069_4082del; p.A1357Lfs*63 (Het.) | FANCM c.171G>C; p.L57F (Het.) |
| RET c.166C>A; p.L56M (Het.) | ||||
| ONCOG.032 | None | FANCL c.1051_1052delAG; p.S351Ffs*2 (Het.) | None | BARD1 c.1028 C>T; p.T343I (Het.) |
| NBN c.1591A>G; p.I531V (Het.) | ||||
| PTCH1 c.1306G>A; p.D426N (Het.) | ||||
| ONCOG.033 | BRCA2 c.2806_2809del; p.A938Pfs*21 (Het.) | None | FANCA c.1874G>C; p.C625S (Het.) | None |
| ONCOG.034 | None | None | None | APC c.4424C>T; p.A1475V (Het.) |
| TMEM127 c.221A>G; p.Y74C (Het.) | ||||
| ONCOG.035 | None | None | None | VHL c.269A>G; p.N90S |
| APC c.3949G>C; p.E1317Q | ||||
| ONCOC.001_G | None | None | None | SDHD c.34G>A; p.G12S |
| SDHD c.149A>G; p.H50R |