ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8660C>A (p.Ser2887Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003043348 SCV003344750 pathogenic Hereditary breast ovarian cancer syndrome 2023-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2887*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency).
GeneDx RCV004719285 SCV005325461 pathogenic not provided 2023-06-20 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge

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