ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6216del (p.Leu2073fs) (rs80359567)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129977 SCV000184801 pathogenic Hereditary cancer-predisposing syndrome 2016-06-08 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)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113549 SCV000146795 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113549 SCV000301002 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785379 SCV000923950 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Invitae RCV000044873 SCV000072886 pathogenic Hereditary breast and ovarian cancer syndrome 2017-10-17 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 11 of the BRCA2 mRNA (c.6216delC), causing a frameshift at codon 2073. This creates a premature translational stop signal (p.Leu2073Tyrfs*8) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759635 SCV000889090 pathogenic not provided 2016-03-05 criteria provided, single submitter clinical testing

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