ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.869G>A (p.Gly290Asp)

gnomAD frequency: 0.00001  dbSNP: rs148556781
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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 RCV000567295 SCV000661593 uncertain significance Hereditary cancer-predisposing syndrome 2025-03-05 criteria provided, single submitter clinical testing The p.G290D variant (also known as c.869G>A), located in coding exon 6 of the BRIP1 gene, results from a G to A substitution at nucleotide position 869. The glycine at codon 290 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000795649 SCV000935117 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2022-03-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 479474). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. This variant is present in population databases (rs148556781, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 290 of the BRIP1 protein (p.Gly290Asp).

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