ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.404+2T>C (rs730881931)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160923 SCV000211627 likely pathogenic not provided 2018-06-05 criteria provided, single submitter clinical testing This variant is denoted RAD51C c.404+2T>C or IVS2+2T>C and consists of a T>C nucleotide substitution at the +2 position of intron 2 of the RAD51C gene. This variant destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant was identified in at least one individual with ovarian cancer (Susswein 2015). Based on the currently available information, we consider RAD51C c.404+2T>C to be a likely pathogenic variant.
Ambry Genetics RCV000221514 SCV000278163 likely pathogenic Hereditary cancer-predisposing syndrome 2019-06-09 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000467500 SCV000550176 likely pathogenic Fanconi anemia, complementation group O 2019-11-29 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the RAD51C gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with ovarian cancer (PMID: 26681312). ClinVar contains an entry for this variant (Variation ID: 182835). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000160923 SCV000888597 pathogenic not provided 2018-04-16 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763014 SCV000893459 likely pathogenic Breast-ovarian cancer, familial 3; Fanconi anemia, complementation group O 2018-10-31 criteria provided, single submitter clinical testing

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.