ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2590G>A (p.Val864Ile) (rs149529390)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546088 SCV000633626 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-11-29 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 864 of the BRIP1 protein (p.Val864Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs149529390, ExAC 0.003%) but has not been reported in the literature in individuals with a BRIP1-related disease. 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 isoleucine 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000575702 SCV000661557 likely benign Hereditary cancer-predisposing syndrome 2018-05-04 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
PreventionGenetics,PreventionGenetics RCV000679781 SCV000807135 uncertain significance not provided 2017-02-14 criteria provided, single submitter clinical testing
Color RCV000575702 SCV000911790 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing

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