ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1208dup (p.Asn404fs)

dbSNP: rs2137468789
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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 RCV001870179 SCV002120702 pathogenic Hereditary breast ovarian cancer syndrome 2021-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn404Lysfs*17) 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 is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related conditions. For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002478126 SCV002774269 likely pathogenic not provided 2021-07-09 criteria provided, single submitter clinical testing This frameshift variant alters the translational reading frame of the BRCA2 mRNA and is predicted to cause the premature termination of BRCA2 protein synthesis. To the best of our knowledge, the variant has not been reported in the published literature. Based on the available information, this variant is classified as likely pathogenic.

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