ClinVar Miner

Submissions for variant NC_000017.11:g.(?_58692634)_(58710000_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000807250 SCV000947293 pathogenic Fanconi anemia complementation group O 2015-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While no subgenic deletions of exons 1-5 in RAD51C have been reported in the literature, experimental studies have shown that this region contains sequence elements that are crucial for RAD51C protein function (PMID: 12966089, 14704354, 15126333). Also, a deletion of 27 nucleotides that affects the first 5 codons of RAD51C (c.-13_14del27) has been reported in a family affected with breast/ovarian cancer and leukemia (PMID: 21750962), probably reflecting the deleterious effect that the loss of the natural initiator methionine has on RAD51C translation. This sequence change is a gross deletion of the genomic region encompassing exons 1-5 of the RAD51C gene. This deletion extends to both edges of the assayed region, and the 5' and 3' boundaries of this event are not known. However, it is expected to result in the loss of 74% of the RAD51C protein (p.Met1_Ala279del), including the initiator methionine.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.