Submissions for variant NM_000059.4(BRCA2):c.3086dup (p.Met1029fs)

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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	RCV001071794	SCV001237115	pathogenic	Hereditary breast ovarian cancer syndrome	2024-04-02	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Met1029Ilefs*7) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 864574). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001071794	SCV002572283	likely pathogenic	Hereditary breast ovarian cancer syndrome	2022-08-24	criteria provided, single submitter	clinical testing	Variant summary: BRCA2 c.3086dupT (p.Met1029IlefsX7) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250064 control chromosomes. c.3086dupT has been reported in the literature in an individual affected with Fanconi Anemia who carried a second pathogenic BRCA2 mutation (Mori_2019). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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