Fanconi anemia complementation group O: genes and variants
Fanconi anemia complementation group O is linked to 1 analyzed protein (RAD51C). 4 DNA variants are known to cause it; 710 more are uncertain, and 2 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Fanconi anemia complementation group O
RAD51C: DNA repair protein RAD51 homolog 3
It participates in RAD51-paralog complexes that promote homologous-recombination repair and restart damaged replication forks. Heterozygous loss-of-function variants increase ovarian and breast-cancer risk, while biallelic variants can cause Fanconi anemia.
4 disease-causing and 710 uncertain variants in RAD51C are linked to Fanconi anemia complementation group O.
Known disease-causing variants in Fanconi anemia complementation group O
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RAD51C C135F | 135 | Interaction with RAD51B, RAD51D and XRCC3 | Disease-causing (★★) |
| RAD51C C135S | 135 | Interaction with RAD51B, RAD51D and XRCC3 | Disease-causing (★★) |
| RAD51C G125V | 125 | Interaction with RAD51B, RAD51D and XRCC3 | Disease-causing (★★) |
| RAD51C E191K | 191 | Disease-causing (★★) |
Uncertain variants in Fanconi anemia complementation group O that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| RAD51C C135R | 135 | Interaction with RAD51B, RAD51D and XRCC3 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; C135F at the same position is pathogenic; seen in 2.7e-06 of gnomAD DNA copies; REVEL 0.759 |
| RAD51C C135W | 135 | Interaction with RAD51B, RAD51D and XRCC3 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; C135F at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.92 |
Same protein, different disease
- Breast-ovarian cancer, familial, susceptibility to, 1 is also caused by RAD51C variants; they fall mostly in different places as the Fanconi anemia complementation group O variants (9 disease-causing).
Diseases related to Fanconi anemia complementation group O
- Ovarian cancer, also linked to RAD51C
- Fanconi anemia, also linked to RAD51C
- Gastric cancer, also linked to RAD51C
- Breast-ovarian cancer, familial, susceptibility to, 1, also linked to RAD51C
- Hereditary breast ovarian cancer syndrome, also linked to RAD51C
- Breast and/or ovarian cancer, also linked to RAD51C
- Familial ovarian cancer, also linked to RAD51C
- RAD51C-related cancer predisposition, also linked to RAD51C
Frequently asked questions
Which genes are linked to Fanconi anemia complementation group O?
In CATVariant, Fanconi anemia complementation group O is linked to 1 analyzed protein: RAD51C (DNA repair protein RAD51 homolog 3).
How many genetic variants are linked to Fanconi anemia complementation group O?
742 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 710 are of uncertain significance or have conflicting reports.
Which uncertain variants in Fanconi anemia complementation group O look disease-causing?
2 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example RAD51C C135R and RAD51C C135W. These are leads for expert review, not diagnoses.
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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