Myoepithelial tumor: genes and variants
Explore variant evidence for Myoepithelial tumor across 2 analyzed proteins (ETV5, POLE). Linked ClinVar records include 2 pathogenic or likely pathogenic variants, 3 variants of uncertain significance and 0 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Counts refer to the selected disease label.
Data updated 2026-10-11. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Myoepithelial tumor
ETV5: ETS translocation variant 5
It regulates growth-factor-responsive transcription during development and contributes to germ-cell, neural, and epithelial differentiation. Dysregulated expression can promote oncogenic growth and invasion, although recurrent pathogenic germline associations are less established.
1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in ETV5 have source records linked to Myoepithelial tumor. Association strength is not clinical gene validity.
POLE: DNA polymerase epsilon catalytic subunit A
It performs leading-strand DNA synthesis and proofreads newly incorporated bases during replication. Germline exonuclease-domain variants cause polymerase-proofreading-associated polyposis, while somatic proofreading defects create ultramutated tumors with distinctive mutation signatures.
1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in POLE have source records linked to Myoepithelial tumor. Association strength is not clinical gene validity.
Weakly linked (only a few uncertain records): GABRB3, KCNJ10 and TRPM4.
ClinVar pathogenic and likely pathogenic variants linked to Myoepithelial tumor
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| POLE E830G | 830 | Pathogenic / likely pathogenic | |
| ETV5 H179P | 179 | Pathogenic / likely pathogenic |
Diseases related to Myoepithelial tumor
- Autosomal dominant nonsyndromic hearing loss, also linked to POLE
- Ovarian cancer, also linked to POLE
- Acute myeloid leukemia, also linked to POLE
- Colorectal cancer, also linked to POLE
- Non-small cell lung carcinoma, also linked to POLE
- Acute lymphoid leukemia, also linked to POLE
- Familial colorectal cancer, also linked to POLE
Frequently asked questions
Which genes have records linked to Myoepithelial tumor?
This view contains 2 analyzed proteins: ETV5, POLE. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 2 pathogenic or likely pathogenic variants, 3 variants of uncertain significance and 0 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 5 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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