ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu)

dbSNP: rs751841684
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000560634 SCV000633527 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2020-06-17 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with BRIP1-related disease. This variant is present in population databases (rs751841684, ExAC 0.006%). This sequence change replaces glycine with glutamic acid at codon 344 of the BRIP1 protein (p.Gly344Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.
Color Diagnostics, LLC DBA Color Health RCV000580888 SCV000684107 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces glycine with glutamic acid at codon 344 of the BRIP1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BRIP1-related disorders in the literature. This variant has been identified in 1/251298 chromosomes 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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626975 SCV000747678 uncertain significance Breast carcinoma 2017-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580888 SCV002696466 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-23 criteria provided, single submitter clinical testing The p.G344E variant (also known as c.1031G>A), located in coding exon 7 of the BRIP1 gene, results from a G to A substitution at nucleotide position 1031. The glycine at codon 344 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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