Fanconi anemia complementation group J: genes and variants
Fanconi anemia complementation group J is linked to 1 analyzed protein (BRIP1). 2 DNA variants are known to cause it; 1,827 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 J
BRIP1: Fanconi anemia group J protein
It unwinds DNA structures and works with BRCA1 and the Fanconi-anemia pathway to repair damaged replication intermediates and interstrand crosslinks. Biallelic loss causes Fanconi anemia group J, while heterozygous loss-of-function variants increase ovarian-cancer risk.
2 disease-causing and 1,827 uncertain variants in BRIP1 are linked to Fanconi anemia complementation group J.
Known disease-causing variants in Fanconi anemia complementation group J
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| BRIP1 Q169H | 169 | Helicase ATP-binding | Disease-causing (★★) |
| BRIP1 Q255H | 255 | Helicase ATP-binding | Disease-causing |
Diseases related to Fanconi anemia complementation group J
- Ovarian cancer, also linked to BRIP1
- Familial cancer of breast, also linked to BRIP1
- Fanconi anemia, also linked to BRIP1
- Gastric cancer, also linked to BRIP1
- Breast-ovarian cancer, familial, susceptibility to, 1, also linked to BRIP1
- Hereditary breast ovarian cancer syndrome, also linked to BRIP1
- Ovarian neoplasm, also linked to BRIP1
- Breast and/or ovarian cancer, also linked to BRIP1
- Familial ovarian cancer, also linked to BRIP1
Frequently asked questions
Which genes are linked to Fanconi anemia complementation group J?
In CATVariant, Fanconi anemia complementation group J is linked to 1 analyzed protein: BRIP1 (Fanconi anemia group J protein).
How many genetic variants are linked to Fanconi anemia complementation group J?
1,839 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1,827 are of uncertain significance or have conflicting reports.
Which uncertain variants in Fanconi anemia complementation group J 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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