Table 2.
Comparison of ARVC allele counts (AC) of the pathogenic variants when using the overall gnomAD frequency (Global) and the cross-ethnic frequency (i.e. common/rare in at least one of the ethnic groups).
| Global | In at least one ethnic group | |||
|---|---|---|---|---|
| Common AC | Rare AC | Common AC | Rare AC | |
| (A) MAF cut-off 0.001 | ||||
| DSC2 | 0 | 374 | 207 | 167 |
| DSG2 | 0 | 250 | 141 | 109 |
| DSP | 0 | 499 | 403 | 96 |
| PKP2 | 631 | 523 | 987 | 167 |
| TOTAL | 631 | 1646 | 1738 | 539 |
| (B) MAF cut-off 0.0001 | ||||
| DSC2 | 325 | 49 | 336 | 38 |
| DSG2 | 171 | 79 | 209 | 41 |
| DSP | 403 | 96 | 472 | 27 |
| PKP2 | 965 | 189 | 1096 | 58 |
| TOTAL | 1864 | 413 | 2113 | 164 |
Two different MAF thresholds were used: (A) MAF ≥ 0.001 for common variants; (B) MAF ≥ 0.0001 for common variants. The overall prevalence of the ARVC genotype in 138,632 gnomAD individuals is 1 in 257, when using the MAF = 0.001 threshold, and 1 in 845 when the MAF = 0.0001 threshold was used. The reference sequences used were as follows: DSC2: ENST00000280904.10 (NM_024422), DSG2: ENST00000261590.12 (NM_001943), DSP: ENST00000379802.7 (NM_004415), JUP: ENST00000393931.7 (NM_002230) and PKP2: ENST00000070846.10 (NM_004572)