DICER1 Chromosome 14

Dicer 1, ribonuclease III

929 variants 929 Health Risk

Upload your DNA to see your personal genotypes for variants in DICER1.

What This Gene Does

This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. This protein also acts as a strong antiviral agent with activity against RNA viruses, including the Zika and SARS-CoV-2 viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2021]

Gene Info

Gene Group

"Endoribonucleases|MicroRNA protein coding host genes|RISC loading complex subunits"

Locus Type

gene with protein product

Location

14q32.13

Ensembl

ENSG00000100697

Associated Conditions (37)

DICER1-related tumor predisposition

Hereditary cancer-predisposing syndrome

Pleuropulmonary blastoma

Euthyroid goiter

Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome

Rhabdomyosarcoma

embryonal

Ovarian cancer

DICER1-related disorder

Breast neoplasm

Primary intracranial sarcoma

DICER1-mutant

Sertoli-Leydig cell tumor

Follicular thyroid carcinoma

Papillary thyroid carcinoma

Cancer or benign tumor

Sarcoma

Pediatric high-grade glioma

Ovarian serous cystadenocarcinoma

+17 more conditions

Key Variants

RS1024226278

Conflicting classifications of pathogenicity

Health Risk

RS1032236740

Conflicting classifications of pathogenicity

Health Risk

RS1045097916

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome

Health Risk

RS1047347414

Conflicting classifications of pathogenicity

Health Risk

RS1060503601

Conflicting classifications of pathogenicity

Health Risk

RS1060503614

Conflicting classifications of pathogenicity

Health Risk

RS1060503616

Conflicting classifications of pathogenicity

Health Risk

RS1060503631

Conflicting classifications of pathogenicity

Health Risk

RS1060503632

Conflicting classifications of pathogenicity

Health Risk

RS1060503647

Conflicting classifications of pathogenicity

Health Risk

RS1060503649

Conflicting classifications of pathogenicity

Health Risk

RS1060503652

Conflicting classifications of pathogenicity

Health Risk

All Variants (929)

RSID	Category	Clinical Significance	Conditions
RS137852976	Health Risk	Likely pathogenic	Pleuropulmonary blastoma, DICER1-related tumor predisposition, Pleuropulmonary blastoma
RS1406824963	Health Risk	Likely pathogenic	—
RS1440194810	Health Risk	Likely pathogenic	Pleuropulmonary blastoma, Pleuropulmonary blastoma
RS1462448145	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1566766572	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1566767820	Health Risk	Likely pathogenic	—
RS1566790572	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595313951	Health Risk	Likely pathogenic	Hereditary cancer-predisposing syndrome, Pleuropulmonary blastoma, DICER1-related tumor predisposition
RS1595314951	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, Supratentorial primitive neuroectodermal tumor, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
RS1595330360	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595338209	Health Risk	Likely pathogenic	—
RS1595354013	Health Risk	Likely pathogenic	Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595363945	Health Risk	Likely pathogenic	Euthyroid goiter, Euthyroid goiter
RS1595365114	Health Risk	Likely pathogenic	—
RS1595380007	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595380210	Health Risk	Likely pathogenic	—
RS1595380836	Health Risk	Likely pathogenic	Euthyroid goiter, DICER1-related tumor predisposition, Euthyroid goiter
RS1595382528	Health Risk	Likely pathogenic	—
RS1595390864	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1595394092	Health Risk	Likely pathogenic	Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1595397289	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595407392	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595414866	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1595438021	Health Risk	Likely pathogenic	—
RS1595438234	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, DICER1-related tumor predisposition
RS1595447577	Health Risk	Likely pathogenic	Euthyroid goiter, DICER1-related tumor predisposition, Euthyroid goiter
RS1595448006	Health Risk	Likely pathogenic	—
RS1595456594	Health Risk	Likely pathogenic	—
RS1595456687	Health Risk	Likely pathogenic	—
RS1595462667	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595465765	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1595466234	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1889714810	Health Risk	Likely pathogenic	—
RS1889805083	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890082420	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890104356	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890354731	Health Risk	Likely pathogenic	—
RS1891391668	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891565957	Health Risk	Likely pathogenic	Euthyroid goiter, DICER1-related tumor predisposition, Euthyroid goiter
RS1891601794	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891604387	Health Risk	Likely pathogenic	See cases, DICER1-related tumor predisposition, See cases
RS1891614679	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, DICER1-related tumor predisposition
RS1891644496	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891645525	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891665514	Health Risk	Likely pathogenic	Hereditary cancer-predisposing syndrome, Neoplasm, DICER1-related tumor predisposition
RS1892041902	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1893837432	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, Squamous cell carcinoma of the head and neck, DICER1-related tumor predisposition
RS201947254	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, DICER1-related tumor predisposition
RS2139773629	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139773639	Health Risk	Likely pathogenic	DICER1-related tumor predisposition, DICER1-related tumor predisposition

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