ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.617C>T (p.Ser206Leu) (rs565458815)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222015 SCV000275787 likely benign Hereditary cancer-predisposing syndrome 2018-05-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Color RCV000222015 SCV000689404 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-04 criteria provided, single submitter clinical testing
Counsyl RCV000662572 SCV000785181 uncertain significance Fanconi anemia, complementation group J; Neoplasm of ovary 2017-05-22 criteria provided, single submitter clinical testing
Invitae RCV000168335 SCV000219024 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 206 of the BRIP1 protein (p.Ser206Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs565458815, ExAC 0.001%). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 188324). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV000506651 SCV000600926 uncertain significance not specified 2016-12-01 criteria provided, single submitter clinical testing

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