ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5076delG (p.Trp1692Cysfs) (rs876660524)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220340 SCV000278031 pathogenic Hereditary cancer-predisposing syndrome 2015-08-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661442 SCV000783721 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000590710 SCV000694824 likely pathogenic Hereditary breast and ovarian cancer syndrome 2016-05-23 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5076delG (p.Trp1692Cysfs) variant causes a frameshift mutation resulting in a premature termination codon, a known mechanism for disease, as these types of variants are predicted to cause transcript degradation through nonsense mediated decay or produce a truncated protein. This variant was not observed in controls (ExAC, 1000 Gs or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or reputable databases/clinical laboratories. Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Likely Pathogenic, until additional information becomes available.

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