ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.905-2A>C (rs779582317)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570941 SCV000663751 likely pathogenic Hereditary cancer-predisposing syndrome 2017-02-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Color RCV000570941 SCV000686402 likely pathogenic Hereditary cancer-predisposing syndrome 2018-09-05 criteria provided, single submitter clinical testing
Invitae RCV000199789 SCV000253964 pathogenic Fanconi anemia, complementation group O 2018-01-06 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 6 of the RAD51C gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (ExAC 0.03%). This variant has been reported in the literature in an individual affected with breast cancer (PMID: 26824983). A different variant affecting this nucleotide (c.905-2A>G) has been reported in an individual affected with ovarian cancer (PMID: 22725699). The results of an in vitro splicing assay showed that the c.905-2A>G variant caused skipping of exon 7, resulting in an out-of-frame transcript and premature stop codon (PMID: 22725699), indicating that this nucleotide is likely crucial for normal RNA splicing. For these reasons, this variant has been classified as Pathogenic.

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