ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.525dup (p.Cys176fs) (rs768793789)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785233 SCV000923801 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Invitae RCV000468007 SCV000550170 pathogenic Fanconi anemia, complementation group O 2018-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys176Leufs*27) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs768793789, ExAC 0.001%). This variant has been reported in an individual affected with breast cancer and non-Hodgkin lymphoma and her daughter affected with ovarian cancer (PMID: 20400964). This variant is also known as c.525_526insC in the literature. ClinVar contains an entry for this variant (Variation ID: 409827). Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). For these reasons, this variant has been classified as Pathogenic.

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