Nijmegen breakage syndrome-like disorder: genes and variants
Nijmegen breakage syndrome-like disorder is linked to 1 analyzed protein (RAD50). 2 DNA variants are known to cause it; 173 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Nijmegen breakage syndrome-like disorder
RAD50: DNA repair protein RAD50
It provides ATP-dependent DNA tethering within the MRE11-RAD50-NBN complex and helps organize detection and processing of double-strand breaks. Biallelic loss-of-function variants can cause a Nijmegen-breakage-syndrome-like disorder with chromosome instability and developmental abnormalities.
2 disease-causing and 173 uncertain variants in RAD50 are linked to Nijmegen breakage syndrome-like disorder.
Known disease-causing variants in Nijmegen breakage syndrome-like disorder
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RAD50 M1I | 1 | Disease-causing (★★) | |
| RAD50 V842I | 842 | Coiled coil | Disease-causing |
Diseases related to Nijmegen breakage syndrome-like disorder
- Ovarian cancer, also linked to RAD50
- Familial cancer of breast, also linked to RAD50
- Hereditary breast ovarian cancer syndrome, also linked to RAD50
Frequently asked questions
Which genes are linked to Nijmegen breakage syndrome-like disorder?
In CATVariant, Nijmegen breakage syndrome-like disorder is linked to 1 analyzed protein: RAD50 (DNA repair protein RAD50).
How many genetic variants are linked to Nijmegen breakage syndrome-like disorder?
189 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 173 are of uncertain significance or have conflicting reports.
Which uncertain variants in Nijmegen breakage syndrome-like disorder look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
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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