ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2900A>G (p.Glu967Gly)

gnomAD frequency: 0.00001  dbSNP: rs1176224216
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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 RCV000562545 SCV000668870 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-04 criteria provided, single submitter clinical testing The p.E967G variant (also known as c.2900A>G), located in coding exon 18 of the BRIP1 gene, results from an A to G substitution at nucleotide position 2900. The glutamic acid at codon 967 is replaced by glycine, 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 RCV001316093 SCV001506696 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-09-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 967 of the BRIP1 protein (p.Glu967Gly). ClinVar contains an entry for this variant (Variation ID: 483142). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated.
Color Diagnostics, LLC DBA Color Health RCV000562545 SCV004362897 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-22 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with glycine at codon 967 of the BRIP1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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