pISSN 2234-3806eISSN 2234-3814
Table. 1.
Carrier frequency and estimated incidence of MUTYH-associated polyposis
| Classification | Total alleles (N) | Carrier frequency (%) (95% CI) | Estimated incidence (1/N) (95% CI) |
|---|---|---|---|
| Total (N=125,748) | |||
| ACMG/AMP (PV/LPV) | 1,618 | 1.29 (1.23–1.35) | 1/24,160 (1/26,634–1/21,919) |
| ClinVar (PV/LPV) | 1,433 | 1.14 (1.08–1.20) | 1/30,801 (1/34,167–1/27,770) |
| HGMD (DM) | 2,610 | 2.08 (2.00–2.16) | 1/9,285 (1/10,022–1/8,603) |
| East Asian (N=9,197) | |||
| ACMG/AMP (PV/LPV) | 32 | 0.35 (0.24–0.50) | 1/330,409 (1/682,611–1/161,863) |
| ClinVar (PV/LPV) | 27 | 0.29 (0.20–0.43) | 1/464,114 (1/1,026,309–1/213,110) |
| HGMD (DM) | 779 | 8.47 (7.91–9.06) | 1/558 (1/639–1/487) |
| African (N=8,128) | |||
| ACMG/AMP (PV/LPV) | 38 | 0.47 (0.34–0.65) | 1/183,004 (1/355,085–1/95,224) |
| ClinVar (PV/LPV) | 32 | 0.39 (0.27–0.56) | 1/258,064 (1/533,090–1/126,450) |
| HGMD (DM) | 68 | 0.84 (0.66–1.07) | 1/57,149 (1/93,211–1/35,198) |
| Latino (N=17,296) | |||
| ACMG/AMP (PV/LPV) | 232 | 1.34 (1.18–1.53) | 1/22,232 (1/28,840–1/17,155) |
| ClinVar (PV/LPV) | 211 | 1.22 (1.06–1.40) | 1/26,877 (1/35,324–1/20,473) |
| HGMD (DM) | 237 | 1.37 (1.20–1.56) | 1/21,304 (1/27,558–1/16,485) |
| Ashkenazi Jewish (N=5,040) | |||
| ACMG/AMP (PV/LPV) | 3 | 0.06 (0.02–0.19) | 1/11,289,600 (1/169,230,545–1/1,113,682) |
| ClinVar (PV/LPV) | 3 | 0.06 (0.02–0.19) | 1/11,289,600 (1/169,230,545–1/1,113,682) |
| HGMD (DM) | 7 | 0.14 (0.06–0.30) | 1/2,073,600 (1/10,794,561–1/445,248) |
| European (Finnish) (N =10,824) | |||
| ACMG/AMP (PV/LPV) | 84 | 0.78 (0.62–0.96) | 1/66,417 (1/102,999–1/42,970) |
| ClinVar (PV/LPV) | 81 | 0.75 (0.60–0.93) | 1/71,428 (1/111,698–1/45,834) |
| HGMD (DM) | 91 | 0.84 (0.68–1.04) | 1/56,592 (1/86,212–1/37,261) |
| European (non-Finnish) (N=56,885) | |||
| ACMG/AMP (PV/LPV) | 1,060 | 1.86 (1.75–1.98) | 1/11,520 (1/12,992–1/10,216) |
| ClinVar (PV/LPV) | 942 | 1.66 (1.55–1.77) | 1/14,587 (1/16,575–1/12,839) |
| HGMD (DM) | 1,189 | 2.09 (1.97–2.21) | 1/9,156 (1/10,255–1/8,176) |
| South Asian (N=15,308) | |||
| ACMG/AMP (PV/LPV) | 117 | 0.76 (0.64–0.92) | 1/68,474 (1/99,141–1/47,392) |
| ClinVar (PV/LPV) | 90 | 0.59 (0.48–0.73) | 1/115,721 (1/176,788–1/75,964) |
| HGMD (DM) | 175 | 1.14 (0.98–1.33) | 1/30,607 (1/41,346–1/22,689) |
| Other (N=3,070) | |||
| ACMG/AMP (PV/LPV) | 52 | 1.69 (1.28–2.23) | 1/13,942 (1/24,418–1/8,024) |
| ClinVar (PV/LPV) | 47 | 1.53 (1.14–2.05) | 1/17,066 (1/30,819–1/9,534) |
| HGMD (DM) | 64 | 2.08 (1.62–2.67) | 1/9,204 (1/15,211–1/5,605) |
Abbreviations: ACMG/AMP, 2015 American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines; 95% CI, 95% confidence interval; DM, disease-causing variant; gnomAD, Genome Aggregation Database; LPV, likely pathogenic variant; PV, pathogenic variant; HGMD, Human Gene Mutation Database.
Ann Lab Med 2025;45:77~84 https://doi.org/10.3343/alm.2024.0242
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