Fanconi anemia complementation group C: genes and variants
Fanconi anemia complementation group C is linked to 1 analyzed protein (FANCC). 1 DNA variants are known to cause it; 76 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 Fanconi anemia complementation group C
FANCC: Fanconi anemia group C protein
It contributes to activation of the FANCD2-FANCI DNA-repair pathway after replication-blocking lesions. Biallelic loss-of-function variants cause Fanconi anemia group C, with chromosome instability, marrow failure, congenital abnormalities, and elevated cancer risk.
1 disease-causing and 76 uncertain variants in FANCC are linked to Fanconi anemia complementation group C.
Known disease-causing variants in Fanconi anemia complementation group C
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FANCC L496R | 496 | Disease-causing |
Diseases related to Fanconi anemia complementation group C
- Ovarian cancer, also linked to FANCC
- Fanconi anemia complementation group A, also linked to FANCC
- Acute myeloid leukemia, also linked to FANCC
- Fanconi anemia, also linked to FANCC
- Hereditary breast ovarian cancer syndrome, also linked to FANCC
- Myelodysplastic syndrome, also linked to FANCC
Frequently asked questions
Which genes are linked to Fanconi anemia complementation group C?
In CATVariant, Fanconi anemia complementation group C is linked to 1 analyzed protein: FANCC (Fanconi anemia group C protein).
How many genetic variants are linked to Fanconi anemia complementation group C?
97 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 76 are of uncertain significance or have conflicting reports.
Which uncertain variants in Fanconi anemia complementation group C 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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