ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3025G>A (p.Gly1009Arg) (rs587781328)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129073 SCV000183776 uncertain significance Hereditary cancer-predisposing syndrome 2013-01-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Invitae RCV000636097 SCV000757529 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-03-09 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1009 of the BRIP1 protein (p.Gly1009Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 140861). 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 arginine 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.

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