ClinVar Miner

Submissions for variant NC_000013.10:g.(?_32944608)_(32946774_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004578309 SCV005067019 likely pathogenic Hereditary breast ovarian cancer syndrome 2020-09-16 criteria provided, single submitter clinical testing This variant results in the deletion of exon 20 and part of exon 19 (c.8404_8632+1540del) of the BRCA2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BRCA2-related conditions. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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