ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6244del (p.Glu2082fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV001181299 SCV001346411 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194024 SCV001363259 likely pathogenic Hereditary breast and ovarian cancer syndrome 2019-08-09 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.6244delG (p.Glu2082AsnfsX4) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease.The variant was absent in 293432 control chromosomes (gnomAD and Momozawa_2018). c.6244delG has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Momozawa_2018, Villarreal-Garza_2015). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Invitae RCV001194024 SCV001582063 pathogenic Hereditary breast and ovarian cancer syndrome 2020-09-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2082Asnfs*4) 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 been observed in individual(s) with breast and/or ovarian cancer (PMID: 25236687, 31454914). 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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