ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7188G>T (p.Leu2396Phe) (rs587780871)

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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 RCV000130352 SCV000185203 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000160128 SCV000210417 likely benign not specified 2015-09-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000160128 SCV000600736 likely benign not specified 2016-04-26 criteria provided, single submitter clinical testing
Invitae RCV000543885 SCV000635562 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-19 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 2396 of the BRCA2 protein (p.Leu2396Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs587780871, ExAC 0.02%). This variant has been reported in individuals undergoing genetic testing for hereditary cancer (PMID: 17924331). ClinVar contains an entry for this variant (Variation ID: 141729). Based on a multifactorial likelihood algorithm using genetic and statistical data, this variant has been determined to have a low probability of being pathogenic (PMID: 17924331, 21990134). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758944 SCV000887905 likely benign not provided 2017-10-26 criteria provided, single submitter clinical testing
Color RCV000130352 SCV000906546 likely benign Hereditary cancer-predisposing syndrome 2018-05-11 criteria provided, single submitter clinical testing

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