ClinVar Miner

Submissions for variant NC_000017.10:g.(56780691_56787219)_(56801462_56809844)dup

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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 RCV003388351 SCV004099619 likely pathogenic Hereditary breast ovarian cancer syndrome 2023-09-07 criteria provided, single submitter clinical testing Variant summary: The variant identified by MLPA or other technology involves the duplication of exons 5-7 in the RAD51C gene. A presumed nomenclature of c.(705+1_706-1)_(965+1_966-1)dup has been designated for the purposes of this classification. It has been assumed that this is a tandem duplication in direct orientation (Richardson_GIM_2018, Newman_AJHG_2015). Although exact breakpoints of this duplication are not known, it is expected to result in a frameshift in the RAD51C gene. The variant was absent in 21174 control chromosomes (gnomAD). To our knowledge, no occurrence of c.(705+1_706-1)_(965+1_966-1)dup in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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