pISSN 2234-3806eISSN 2234-3814
Table. 2.
Carrier frequency and estimated incidence of MUTYH in East Asians and Koreans
| Classification | Total alleles (N) | Carrier frequency (%) | Estimated incidence (1/N) |
|---|---|---|---|
| gnomAD East Asian exomes (N=9,197) | |||
| ACMG/AMP (PV/LPV) | 32 | 0.35 (0.24–0.50) | 1/330,409 (1/161,863–1/682,611) |
| ClinVar (PV/LPV) | 27 | 0.29 (0.20–0.43) | 1/464,114 (1/213,110–1/1,026,309) |
| HGMD (DM) | 779 | 8.47 (7.91–9.06) | 1/558 (1/487–1/639) |
| gnomAD Korean exomes (N=1,909) | |||
| ACMG/AMP (PV/LPV) | 5 | 0.26 (0.10–0.65) | 1/583,085 (1/95,243–1/4,298,410) |
| ClinVar (PV/LPV) | 4 | 0.21 (0.07–0.57) | 1/911,070 (1/121,041–1/8,872,642) |
| HGMD (DM) | 137 | 7.18 (6.08–8.45) | 1/777 (1/560–1/1,083) |
| gnomAD Japanese exomes (N=76) | |||
| ACMG/AMP (PV/LPV) | 0 | 0 (0–6.00) | NA (1/1,113–NA) |
| ClinVar (PV/LPV) | 0 | 0 (0–6.0) | NA (1/1,113–NA) |
| HGMD (DM) | 4 | 5.26 (1.70–13.64) | 1/1,444 (1/215–1/13,850) |
| gnomAD Other East Asian exomes (N=7,212) | |||
| ACMG/AMP (PV/LPV) | 27 | 0.37 (0.25–0.55) | 1/285,393 (1/131,103–1/630,970) |
| ClinVar (PV/LPV) | 23 | 0.32 (0.21–0.49) | 1/393,293 (1/169,061–1/932,900) |
| HGMD (DM) | 638 | 8.85 (8.21–9.53) | 1/511 (1/440–1/594) |
| All Korean (N=8,936) | |||
| ACMG/AMP (PV/LPV) | 33 | 0.37 (0.26–0.52) | 1/293,304 (1/145,303–1/598,920) |
| ClinVar (PV/LPV) | 28 | 0.31 (0.21–0.46) | 1/407,409 (1/189,781–1/887,395) |
| HGMD (DM) | 474 | 5.30 (4.85–5.79) | 1/1,422 (1/1,191–1/1,698) |
| gnomAD Korean exomes (N=1,909) | |||
| ACMG/AMP (PV/LPV) | 5 | 0.26 (0.10–0.65) | 1/583,085 (1/95,243–1/4,298,410) |
| ClinVar (PV/LPV) | 4 | 0.21 (0.07–0.57) | 1/911,070 (1/121,041–1/8,872,642) |
| HGMD (DM) | 137 | 7.18 (6.08–8.45) | 1/777 (1/560–1/1,083) |
| KOVA (N=5,305) | |||
| ACMG/AMP (PV/LPV) | 22 | 0.41 (0.27–0.64) | 1/232,587 (1/98,129–1/563,047) |
| ClinVar (PV/LPV) | 18 | 0.34 (0.21–0.55) | 1/347,445 (1/133,564–1/929,528) |
| HGMD (DM) | 329 | 6.20 (5.57–6.89) | 1/1,040 (1/842–1/1,287) |
| KRGDB (N=1,722) | |||
| ACMG/AMP (PV/LPV) | 6 | 0.35 (0.14–0.80) | 1/329,476 (1/62,877–1/1,991,652) |
| ClinVar (PV/LPV) | 6 | 0.35 (0.14–0.80) | 1/329,476 (1/62,877–1/1,991,652) |
| HGMD (DM) | 8 | 0.46 (0.22–0.95) | 1/185,330 (1/44,105–1/855,943) |
Abbreviations: ACMG/AMP, 2015 American College of Medical Genetics and Genomics and the Association for Molecular Pathology guideline; 95% CI, 95% confidence interval; DM, disease-causing variant; gnomAD, Genome Aggregation Database; LPV, likely pathogenic variant; NA, not applicable; PV, pathogenic variant.
Ann Lab Med 2025;45:77~84 https://doi.org/10.3343/alm.2024.0242
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