MRE11
Chr 11ARMRE11 double strand break repair nuclease
Also known as: ATLD, HNGS1, MRE11A, MRE11B
This gene encodes MRE11, a nuclease that forms the MRN complex essential for DNA double-strand break repair, homologous recombination, and telomere maintenance. Mutations cause ataxia-telangiectasia-like disorder 1, an autosomal recessive condition characterized by progressive ataxia and telangiectasias affecting the nervous system and vasculature. The gene is highly constrained against loss-of-function variants (pLI near 1.0), indicating that complete loss of function is likely incompatible with normal development.
Refuted — evidence has disproved this relationship
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 8 | 0 | 6 | 0 | 14 |
Likely Pathogenic | 18 | 0 | 2 | 0 | 20 |
VUS | 0 | 297 | 12 | 3 | 312 |
Likely Benign | 0 | 3 | 21 | 99 | 123 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 5 | |||
| Total | 26 | 300 | 41 | 102 | 474 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MRE11 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Prevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History
NOT YET RECRUITINGSerial Circulating Tumor DNA (ctDNA) Monitoring During Adjuvant Capecitabine in Early Triple-negative Breast Cancer
RECRUITINGAbiraterone/Prednisone, Olaparib, or Abiraterone/Prednisone + Olaparib in Patients With Metastatic Castration-Resistant Prostate Cancer With DNA Repair Defects
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools