ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.316+5G>C (rs81002840)

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Total submissions: 5
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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) RCV001000109 SCV001156533 pathogenic Breast-ovarian cancer, familial 2 2018-04-01 reviewed by expert panel curation Class 5 Pathogenic based on posterior probability = 0.9999 (PMID: 29707112) from multifactorial likelihood analysis, thresholds for IARC Class as per Plon et al. 2008 (PMID: 18951446). Almost complete (95%) skipping of exon 3 (r.68_316del) in a minigene splicing assay. Molecular consequence is the same as other variants designated as pathogenic as determined by multifactorial likelihood analysis (PMID: 29707112).
Integrated Genetics/Laboratory Corporation of America RCV000588126 SCV000694671 pathogenic Hereditary breast and ovarian cancer syndrome 2016-03-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759597 SCV000889018 likely pathogenic not provided 2018-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018884 SCV001180178 pathogenic Hereditary cancer-predisposing syndrome 2020-02-06 criteria provided, single submitter clinical testing Functionally-validated splicing mutation;Good segregation with disease (lod 1.5-3 = 5-9 meioses);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Rarity in general population databases (dbsnp, esp, 1000 genomes);Well-characterized mutation at same position
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577435 SCV000678785 not provided Familial cancer of breast no assertion provided literature only

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