Variants
DICER1 variants
The 40 DICER1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.734+3A>T | Intron 6 | 95,129,469 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1509+16A>G | Intron 9 | 95,117,606 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1752+213A>G | Intron 10 | 95,116,240 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1753-9A>G | Intron 10 | 95,115,830 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1907+1G>A | Intron 11 | 95,115,666 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1908-3C>G | Intron 11 | 95,113,227 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2256+5G>A | Intron 14 | 95,111,312 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2256+5G>C | Intron 14 | 95,111,312 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2257-7A>G | Intron 14 | 95,108,510 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2523A>G | Exon 16 | 95,108,007 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2650+1G>T | Intron 16 | 95,107,879 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2988-1G>T | Intron 18 | 95,105,784 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5096-12G>A | Intron 23 | 95,094,168 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5365-4A>G | Intron 24 | 95,091,369 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5425G>C | Exon 25 | 95,091,305 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5527+3A>G | Intron 25 | 95,091,200 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| D1709N | c.5125G>A | Exon 24 | 95,094,127 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1713V | c.5138A>T | Exon 24 | 95,094,114 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1810Y | c.5428G>T | Exon 25 | 95,091,302 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1822G | c.5465A>G | Exon 25 | 95,091,265 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1822V | c.5465A>T | Exon 25 | 95,091,265 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E80X | c.238G>T | Exon 3 | 95,132,584 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E292Rfs*27 | c.873_877del | Exon 7 | 95,126,605 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E470X | c.1408G>T | Exon 9 | 95,117,723 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E503D | c.1509G>C | Exon 9 | 95,117,622 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1705K | c.5113G>A | Exon 24 | 95,094,139 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F896Ifs*6 | c.2685dup | Exon 17 | 95,107,726 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1809R | c.5425G>A | Exon 25 | 95,091,305 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I627Tfs*22 | c.1880_1883del | Exon 11 | 95,115,690 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L881P | c.2642T>C | Exon 16 | 95,107,888 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1583R | c.4748T>G | Exon 23 | 95,096,172 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1712Ffs*11 | c.5135dup | Exon 24 | 95,094,116 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1827Wfs*11 | c.5479del | Exon 25 | 95,091,250 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M842Cfs*4 | c.2524del | Exon 16 | 95,108,005 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N1742del | c.5225_5227del | Exon 24 | 95,094,024 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q1007X | c.3019C>T | Exon 19 | 95,105,752 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q1702X | c.5104C>T | Exon 24 | 95,094,148 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R293Ifs*4 | c.878_881del | Exon 7 | 95,126,601 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S839F | c.2516C>T | Exon 16 | 95,108,014 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S1814L | c.5441C>T | Exon 25 | 95,091,289 | Pathogenic | 3 stars out of 4 reviewed by expert panel |