ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3590G>A (p.Gly1197Glu)

dbSNP: rs587781677
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129837 SCV000184653 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-22 criteria provided, single submitter clinical testing The p.G1197E variant (also known as c.3590G>A), located in coding exon 19 of the BRIP1 gene, results from a G to A substitution at nucleotide position 3590. The glycine at codon 1197 is replaced by glutamic 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 RCV000473357 SCV000547285 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2022-09-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1197 of the BRIP1 protein (p.Gly1197Glu). This variant is not present in population databases (gnomAD no frequency). 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: 141350). 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.
PreventionGenetics, part of Exact Sciences RCV000679786 SCV000807146 uncertain significance not provided 2017-03-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000129837 SCV004362862 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-16 criteria provided, single submitter clinical testing This missense variant replaces glycine with glutamic acid at codon 1197 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526618 SCV005039255 uncertain significance not specified 2024-03-22 criteria provided, single submitter clinical testing

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