Table 3.
Diagnostic yield and distribution of top 19 PML-associated variants by primary disease.
| Variant ID | Gene symbol | Variant (hg19) | Cases per variant | Cum. cases non-redundant | Cum. Dx yield | Blood cancer (n = 22) | HIV (n = 125) | MS (n = 15) | Other (n = 23) | Other ethnicity casesa |
|---|---|---|---|---|---|---|---|---|---|---|
| COMBINED EUR COHORTS (n = 136) | ||||||||||
| 1 | IGLL1 | 22-23915745-G-A | 3 | 3 | 2.2% | 0 | 2 | 1 | 0 | 1 HIV |
| 2 | MDC1 | 6-30673359-T-G | 8 | 10 | 7.4% | 0 | 7 | 0 | 1 | 1 HIV |
| 3 | STXBP2 | 19-7712287-G-C | 4 | 14 | 10.3% | 0 | 1 | 2 | 1 | 0 |
| 4 | FCN2 | 9-137779251-G-A | 6 | 19 | 14.0% | 1 | 3 | 2 | 0 | 1 HIV |
| 5 | MCM5 | 22-35806756-G-A | 7 | 26 | 19.1% | 0 | 5 | 1 | 1 | 0 |
| 6 | IGLL1 | 22-23915583-T-C | 5 | 31 | 22.8% | 4 | 1 | 0 | 0 | 0 |
| 7 | IFIH1 | 2-163136505-C-G | 11 | 40 | 29.4% | 1 | 7 | 1 | 2 | 1 HIV |
| 8 | PLCG2 | 16-81939089-T-C | 5 | 44 | 32.4% | 0 | 3 | 0 | 2 | 0 |
| 9 | PLCG2 | 16-81942175-A-G | 6 | 45 | 33.1% | 0 | 3 | 1 | 2 | 5 HIV |
| COMBINED AFR COHORTS (n = 49) | ||||||||||
| 10 | LY9 | 1-160769595-AG-A | 2 | 2 | 4.1% | 0 | 1 | 0 | 1 | 0 |
| 11 | LIG1 | 19-48643270-C-T | 2 | 4 | 8.2% | 0 | 2 | 0 | 0 | 1 HIV |
| 12 | PKHD1 | 6-51798908-C-T | 3 | 7 | 14.3% | 0 | 3 | 0 | 0 | 0 |
| 13 | AIRE | 21-45708278-G-A | 2 | 9 | 18.4% | 0 | 2 | 0 | 0 | 0 |
| 14 | GFI1 | 1-92946625-G-C | 2 | 11 | 22.4% | 0 | 2 | 0 | 0 | 1 Blood cancer, 1 HIV |
| 15 | NQO2 | 6-3015818-G-A | 3 | 14 | 28.6% | 0 | 3 | 0 | 0 | 0 |
| 16 | C8B | 1-57409459-C-A | 2 | 16 | 32.7% | 0 | 2 | 0 | 0 | 1 Blood cancer, 1 HIV, 1 MS |
| 17 | CFHR2 | 1-196918605-A-G | 3 | 19 | 38.8% | 0 | 3 | 0 | 0 | 0 |
| 18 | DNASE1L3 | 3-58191230-G-T | 2 | 20 | 40.8% | 0 | 2 | 0 | 0 | 0 |
| 19 | TCIRG1 | 11-67818269-G-A | 7 | 24 | 49.0% | 0 | 7 | 0 | 0 | 0 |
| 9 | PLCG2 | 16-81942175-A-G | 5 | 26 | 53.1% | 0 | 5 | 0 | 0 | 3 HIV, 1 MS, 2 Other |
a
Other ethnicity cases lists the number of AFR cases with an EUR variant (1–9) or the number of EUR cases with an AFR variant (9, 10–19).