ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4804A>T (p.Lys1602Ter)

dbSNP: rs1566231167
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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 RCV001896552 SCV002163094 pathogenic Hereditary breast ovarian cancer syndrome 2021-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1602*) 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 affected with BRCA2-related conditions. For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001896552 SCV004847880 likely pathogenic Hereditary breast ovarian cancer syndrome 2019-10-14 criteria provided, single submitter clinical testing The p.Lys1602X variant in BRCA2 has not been previously reported in individuals with hereditary breast and/or ovarian cancer (HBOC) and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 1602, which is predicted to lead to a truncated or absent protein. Loss of function of the BRCA2 gene is an established disease mechanism in autosomal dominant HBOC. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant HBOC. ACMG/AMP Criteria applied: PVS1, PM2.

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