ClinVar Miner

Submissions for variant NC_000005.9:g.(?_131892615)_(131980314_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002240102 SCV002511727 likely pathogenic Hereditary breast ovarian cancer syndrome 2022-04-15 criteria provided, single submitter clinical testing Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 1-25 (i.e. the full coding sequence) of the RAD50 gene. A presumed nomenclature of c.(?_-402)_(*2258_?)del has been designated for the purposes of this classification. Since exact breakpoints of this deletion are not known, it might extend beyond the assayed region of the RAD50 gene, including other flanking genes. The variant was absent in 21678 control chromosomes in the gnomAD database, structural variants dataset. To our knowledge, no occurrence of c.(?_-402)_(*2258_?)del in individuals affected with Hereditary Breast and Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014, and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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