ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3064G>A (p.Glu1022Lys) (rs587782808)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132368 SCV000187458 likely benign Hereditary cancer-predisposing syndrome 2017-10-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification
Invitae RCV000461152 SCV000547366 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-10-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1022 of the BRIP1 protein (p.Glu1022Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs587782808, ExAC 0.01%), and was observed in 2 study control individuals (PMID: 26315354). In addition, this variant has been reported in 4 breast cancer cases and 7 healthy controls in the same study (PMID: 26921362). It has not been reported in the literature in individuals with a BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 142900). 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 lysine amino acid residue is also 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. 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.
Color RCV000132368 SCV000903478 likely benign Hereditary cancer-predisposing syndrome 2016-05-02 criteria provided, single submitter clinical testing

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