RAD51C Chromosome 17
RAD51 paralog C
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What This Gene Does
This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
"FA complementation groups|RAD51 paralogs"
Locus Type
gene with protein product
Location
17q22
Ensembl
ENSG00000108384
Associated Conditions (37)
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer
familial
susceptibility to
3
Familial ovarian cancer
Malignant tumor of breast
RAD51C-related cancer predisposition
Hereditary breast ovarian cancer syndrome
RAD51C-related disorder
Ovarian cancer
Breast and/or ovarian cancer
Familial cancer of breast
Ovarian neoplasm
Breast carcinoma
Inherited ovarian cancer (without breast cancer)
Hereditary cancer
Premature ovarian insufficiency
Carcinoma of colon
+17 more conditions
Key Variants
RS1000113630
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Breast-ovarian cancer
Health Risk
RS1006806353
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
Health Risk
RS1057521598
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Malignant tumor of breast
Health Risk
RS1057522948
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Familial ovarian cancer
Health Risk
RS1060502586
Conflicting classifications of pathogenicity
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
Health Risk
RS1060502587
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Breast-ovarian cancer
Health Risk
RS1060502589
Conflicting classifications of pathogenicity
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
Health Risk
RS1060502590
Conflicting classifications of pathogenicity
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
Health Risk
RS1060502591
Conflicting classifications of pathogenicity
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
Health Risk
RS1060502592
Conflicting classifications of pathogenicity
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
Health Risk
RS1060502593
Conflicting classifications of pathogenicity
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060502594
Conflicting classifications of pathogenicity
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
Health Risk
All Variants (625)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555602124 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1555602136 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Breast-ovarian cancer |
| RS1555602145 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Breast-ovarian cancer |
| RS1555603052 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1555605052 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Fanconi anemia complementation group O |
| RS1555605054 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Breast-ovarian cancer |
| RS1555605068 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O |
| RS1555605532 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O |
| RS1555605562 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O |
| RS1555605640 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1567783294 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, RAD51C-related disorder |
| RS1567785734 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1567785872 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Ovarian neoplasm, Hereditary cancer-predisposing syndrome |
| RS1567786001 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1567794083 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Breast-ovarian cancer |
| RS1567794089 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS1567799662 | Health Risk | Conflicting classifications of pathogenicity | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS1567799667 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O |
| RS1567799818 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1567799906 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS1567808196 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O |
| RS1567810482 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O |
| RS1567817289 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1567818564 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1567818677 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O |
| RS1598448876 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1598449381 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS1598449660 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Fanconi anemia complementation group O |
| RS1598455555 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Breast-ovarian cancer |
| RS1598456075 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS1598456274 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS1598459949 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Breast-ovarian cancer |
| RS1598460593 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1598460753 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1598473225 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O |
| RS1598473310 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1598484479 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1598484851 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1598510954 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Breast-ovarian cancer |
| RS1598534951 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial |
| RS1598540478 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O |
| RS184033132 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS185057307 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Breast-ovarian cancer |
| RS199886026 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Breast-ovarian cancer |
| RS200293302 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Breast-ovarian cancer |
| RS200857129 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Breast-ovarian cancer |
| RS201523760 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Breast-ovarian cancer |
| RS2047797645 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS2047798556 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS2047809263 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O |