ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1090A>G (p.Ile364Val) (rs770306753)

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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 RCV000575286 SCV000673146 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Color RCV000575286 SCV000684110 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV000636067 SCV000757499 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2017-11-21 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 364 of the BRIP1 protein (p.Ile364Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast and adrenal tumors (PMID: 26140431). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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