ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.971del (p.Arg324fs)

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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 RCV002983022 SCV003292826 pathogenic Hereditary breast ovarian cancer syndrome 2022-01-11 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg324Lysfs*25) 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). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003316879 SCV004019234 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2023-02-23 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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