Table 1.
Variants of the EYS gene.
| No | Variant | Amino acid change | Variant type | Location in EYS protein | Variant classification | Allele frequency (%) | Reference | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ExAC | gnomAD—exomes | This cohort | |||||||||
| Global | Asian | Global | Asian | ||||||||
| 1 | c.872G>A | p.Cys291Tyr | Missense | EGF-like 3 | VUS | 0.0008% | 0.004% | 0.0004% | 0.002% | 0.4% (1/250) | rs749086805 |
| 2 | c.904C>T | p.Leu302Phe | Missense | – | Likely benign | 0.0305% | 0.147% | 0.0315% | 0.159% | 0.4% (1/250) | VCV000760888.3 |
| 3 | c.1260_1260delG | p.Asn421Metfs*8 | Frameshift | – | Pathogenic | N/A | N/A | N/A | N/A | 0.4% (1/250) | Jinda, 2014 |
| 4 | c.2041G>T | p.Asp681Tyr | Missense | EGF-like 8 | Likely pathogenic | N/A | N/A | N/A | N/A | 0.4% (1/250) | Novel |
| 5 | c.2486_2486delT | p.Ile829Thrfs*39 | Frameshift | EGF-like 11 | Pathogenic | N/A | N/A | N/A | N/A | 0.4% (1/250) | Novel |
| 6 | IVS19+1G>A | splicing site change | Splicing | EGF-like 15 | Likely pathogenic | N/A | N/A | N/A | N/A | 0.4% (1/250) | Novel |
| 7 | c.3293C>A | p.Ala1098Glu | Missense | EGF-like 18 | VUS | 0.014% | 0.02% | 0.0045% | 0.018% | 0.4% (1/250) | VCV000990050.1 |
| 8 | c.3473G>A | p.Cys1158Tyr | Missense | EGF-like 19 | VUS | N/A | N/A | 0.0007% | 0.004% | 0.4% (1/250) | rs1346175770 |
| 9 | c.5411T>C | p.Ile1804Thr | Missense | – | Benign | 0.005% | 0.01% | 0.0157% | 0.071% | 0.4% (1/250) | VCV000797211.4 |
| 10 | c.6416G>A | p.Cys2139Tyr | Missense | EGF-like 21 | Pathogenic | 0.005% | 0.01% | 0.0144% | 0.054% | 2% (5/250) | VCV000189230.17 |
| 11 | c.6557G>A | p.Gly2186Glu | Missense | Laminin G-like 2 | Pathogenic | N/A | N/A | 0.004% | 0.019% | 0.4% (1/250) | VCV000143108.4 |
| 12 | c.7065A>C | p.Glu2355Asp | Missense | EGF-like 22 | VUS | 0.005% | 0.01% | 0.0058% | 0.027% | 0.4% (1/250) | rs749617474 |
| 13 | c.7115T>A | p.Phe2372Tyr | Missense | EGF-like 23 | Likely pathogenic | N/A | N/A | N/A | N/A | 0.4% (1/250) | rs1004559050 |
| 14 | c.7327G>T | p.Glu2443* | Nonsense | Laminin G-like 3 | Pathogenic | N/A | N/A | N/A | N/A | 0.4% (1/250) | rs1459422877 |
| 15 | c.7328A>C | p.Glu2443Ala | Missense | Laminin G-like 3 | Likely pathogenic | N/A | N/A | N/A | N/A | 0.4% (1/250) | Novel |
| 16 | c.7331T>A | p.Phe2444Tyr | Missense | Laminin G-like 3 | Likely pathogenic | N/A | N/A | N/A | N/A | 0.4% (1/250) | Novel |
| 17 | c.7332_7333delCC | p.Phe2444Leufs*16 | Frameshift | Laminin G-like 3 | Pathogenic | N/A | N/A | N/A | N/A | 0.4% (1/250) | Novel |
| 18 | c.7868G>A | p.Gly2623Glu | Missense | EGF-like 24 | VUS | 0.143% | 0.36% | 0.0748% | 0.339% | 0.8% (2/250) | VCV000556919.7 |
| 19 | c.8012T>A | p.Leu2671* | Nonsense | EGF-like 25 | Pathogenic | N/A | N/A | 0.0013% | 0.006% | 0.4% (1/250) | VCV000143113.3 |
| 20 | c.8107G>T | p.Glu2703* | Nonsense | – | Pathogenic | 0.005% | 0.01% | 0.0143% | 0.065% | 1.6% (4/250) | VCV000853127.6 |
| 21 | c.8780_8783delGTAT | p.Cys2927Tyrfs*47 | Frameshift | EGF-like 26 | Likely pathogenic | N/A | N/A | N/A | N/A | 0.4% (1/250) | Novel |
| 22 | c.9197T>C | p.Leu3066Pro | Missense | Laminin G-like 5 | VUS | N/A | N/A | N/A | N/A | 0.4% (1/250) | Novel |
EGF-like domain, epidermal growth factor-like domain; VUS, variant of unknown significance; ExAC, Exome Aggregation Consortium; gnomAD, Genome Aggregation Database.