DICER1-related tumor predisposition: genes and variants
DICER1-related tumor predisposition is linked to 1 analyzed protein (DICER1). 28 DNA variants are known to cause it; 1,794 more are uncertain, and 6 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to DICER1-related tumor predisposition
DICER1: Endoribonuclease Dicer
It cleaves precursor microRNAs into mature regulatory RNAs that guide post-transcriptional gene silencing. Germline pathogenic variants cause DICER1 tumor-predisposition syndrome, with increased risk of several rare childhood and young-adult tumors.
28 disease-causing and 1,794 uncertain variants in DICER1 are linked to DICER1-related tumor predisposition.
Where DICER1-related tumor predisposition variants cluster
- DICER1 RNase III 2 (positions 1666–1824): 22 of 28 disease-causing changes, 9.5× more than its size predicts.
Known disease-causing variants in DICER1-related tumor predisposition
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DICER1 G1809R | 1809 | RNase III 2 | Disease-causing (★★★) |
| DICER1 E1705K | 1705 | RNase III 2 | Disease-causing (★★★) |
| DICER1 D1810Y | 1810 | RNase III 2 | Disease-causing (★★★) |
| DICER1 E503D | 503 | Helicase C-terminal | Disease-causing (★★★) |
| DICER1 S1344L | 1344 | RNase III 1 | Disease-causing (★★) |
| DICER1 E1705V | 1705 | RNase III 2 | Disease-causing (★) |
| DICER1 E1705Q | 1705 | RNase III 2 | Disease-causing (★) |
| DICER1 E1705D | 1705 | RNase III 2 | Disease-causing (★) |
| DICER1 D1709V | 1709 | RNase III 2 | Disease-causing (★) |
| DICER1 D1709H | 1709 | RNase III 2 | Disease-causing (★) |
| DICER1 D1709Y | 1709 | RNase III 2 | Disease-causing (★) |
| DICER1 D1709E | 1709 | RNase III 2 | Disease-causing (★) |
| DICER1 G1809W | 1809 | RNase III 2 | Disease-causing (★) |
| DICER1 G1809E | 1809 | RNase III 2 | Disease-causing (★) |
| DICER1 D1810N | 1810 | RNase III 2 | Disease-causing (★) |
| DICER1 D1810G | 1810 | RNase III 2 | Disease-causing (★) |
| DICER1 D1810V | 1810 | RNase III 2 | Disease-causing (★) |
| DICER1 E1813V | 1813 | RNase III 2 | Disease-causing (★) |
| DICER1 E1813D | 1813 | RNase III 2 | Disease-causing (★) |
| DICER1 G1708R | 1708 | RNase III 2 | Disease-causing (★) |
| DICER1 D1709C | 1709 | RNase III 2 | Disease-causing (★) |
| DICER1 E1813S | 1813 | RNase III 2 | Disease-causing (★) |
| DICER1 D1713A | 1713 | RNase III 2 | Disease-causing (★) |
| DICER1 D1713N | 1713 | RNase III 2 | Disease-causing (★) |
| DICER1 G803R | 803 | Disease-causing (★) | |
| DICER1 L805P | 805 | Disease-causing (★) | |
| DICER1 R245K | 245 | Disease-causing (★) | |
| DICER1 I582F | 582 | Helicase C-terminal | Disease-causing (★) |
Uncertain variants in DICER1-related tumor predisposition that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| DICER1 E1813K | 1813 | RNase III 2 | Conflicting reports (★) | +7: 7 other pathogenic changes within 3 positions; E1813V at the same position is pathogenic; seen in 6.8e-07 of gnomAD DNA copies; REVEL 0.869 |
| DICER1 E1813Q | 1813 | RNase III 2 | Conflicting reports (★) | +6: 7 other pathogenic changes within 3 positions; E1813V at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 1.00 |
| DICER1 D1810H | 1810 | RNase III 2 | Uncertain (★★★) | +6: 10 other pathogenic changes within 3 positions; D1810N at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 1.00 |
| DICER1 E1813A | 1813 | RNase III 2 | Uncertain (★★★) | +6: 7 other pathogenic changes within 3 positions; E1813V at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.99 |
| DICER1 E1813G | 1813 | RNase III 2 | Uncertain (★★★) | +6: 7 other pathogenic changes within 3 positions; E1813V at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.99 |
| DICER1 G803E | 803 | Uncertain (★) | +6: 2 other pathogenic changes within 3 positions; G803R at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 1.00 |
Which prediction tools work for DICER1-related tumor predisposition
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CATVariant: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 98 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 96 out of 100
Diseases related to DICER1-related tumor predisposition
- Ovarian cancer, also linked to DICER1
Frequently asked questions
Which genes are linked to DICER1-related tumor predisposition?
In CATVariant, DICER1-related tumor predisposition is linked to 1 analyzed protein: DICER1 (Endoribonuclease Dicer).
How many genetic variants are linked to DICER1-related tumor predisposition?
1,910 variants: 28 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1,794 are of uncertain significance or have conflicting reports.
Which uncertain variants in DICER1-related tumor predisposition look disease-causing?
6 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example DICER1 E1813K, DICER1 E1813Q, DICER1 D1810H, DICER1 E1813A and DICER1 E1813G. These are leads for expert review, not diagnoses.
Which variant effect predictor works best for DICER1-related tumor predisposition?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.96, based on 23 disease-causing and 12 harmless variants).
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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