ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6155dup (p.Ser2053Ilefs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000687048 SCV000918874 likely pathogenic Hereditary breast and ovarian cancer syndrome 2018-01-19 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6155dupC (p.Ser2053IlefsX7) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.6267_6269delinsC (p.Glu2089fsX2), c.6270_6271delTA (p.His2090fsX9), and c.6275_6276delTT (p.Leu2092fsX7)). This variant is absent in 245642 control chromosomes (gnomAD). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.
Invitae RCV000687048 SCV000814599 pathogenic Hereditary breast and ovarian cancer syndrome 2018-02-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2053Ilefs*7) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. 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 disease. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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