Hereditary retinoblastoma: genes and variants
Hereditary retinoblastoma is linked to 1 analyzed protein (RB1). 2 DNA variants are known to cause it; 1 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 Hereditary retinoblastoma
RB1: Retinoblastoma-associated protein
It restrains E2F-dependent transcription and prevents inappropriate G1-to-S cell-cycle progression until proliferative signals are appropriate. Loss of function is a fundamental cancer-driving event, while germline pathogenic variants cause hereditary retinoblastoma and increase risk of additional tumors.
2 disease-causing and 1 uncertain variants in RB1 are linked to Hereditary retinoblastoma.
Known disease-causing variants in Hereditary retinoblastoma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RB1 C712R | 712 | Domain B | Disease-causing (★★) |
| RB1 K530R | 530 | Domain A | Disease-causing (★★) |
Same protein, different disease
- Retinoblastoma is also caused by RB1 variants; they fall mostly in different places as the Hereditary retinoblastoma variants (33 disease-causing).
Diseases related to Hereditary retinoblastoma
- Retinoblastoma, also linked to RB1
- Malignant tumor of urinary bladder, also linked to RB1
- Non-small cell lung carcinoma, also linked to RB1
- Lung adenocarcinoma, also linked to RB1
- Hepatocellular carcinoma, also linked to RB1
- Bone osteosarcoma, also linked to RB1
Frequently asked questions
Which genes are linked to Hereditary retinoblastoma?
In CATVariant, Hereditary retinoblastoma is linked to 1 analyzed protein: RB1 (Retinoblastoma-associated protein).
How many genetic variants are linked to Hereditary retinoblastoma?
22 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hereditary retinoblastoma 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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