ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1446C>G (p.Ile482Met) (rs759360709)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197743 SCV000255148 uncertain significance Familial cancer of breast 2015-01-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 482 of the BRIP1 protein (p.Ile482Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant has not been published in the literature and is not present in population databases. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Also, algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this change may alter mRNA splicing through the creation of a novel splice site. However, these predictions have not been confirmed by published experimental studies. In summary, this is a novel missense change with uncertain impact on protein function and mRNA splicing. It has been classified as a Variant of Uncertain Significance.
Color RCV000581460 SCV000689262 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-30 criteria provided, single submitter clinical testing

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