ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1792dup (p.Thr598fs)

dbSNP: rs886040389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661445 SCV000783725 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Labcorp Genetics (formerly Invitae), Labcorp RCV000474362 SCV000549567 pathogenic Hereditary breast ovarian cancer syndrome 2022-07-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 409463). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr598Asnfs*4) 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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000474362 SCV000694562 likely pathogenic Hereditary breast ovarian cancer syndrome 2016-09-27 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1792dupA (p.Thr598Asnfs) 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.1796_1800delCTTAT (p.Ser599X), c.1800T>A (p.Tyr600X), and c.1813delA (p.Ile605fs)). The variant of interest 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 diagnostic laboratories. Therefore, until additional information becomes available, the variant of interest has been classified as Likely Pathogenic.

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