ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.839A>G (p.Asp280Gly)

dbSNP: rs1555609193
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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 RCV000572797 SCV000673160 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-12 criteria provided, single submitter clinical testing The p.D280G variant (also known as c.839A>G), located in coding exon 6 of the BRIP1 gene, results from an A to G substitution at nucleotide position 839. The aspartic acid at codon 280 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000572797 SCV001354057 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-25 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glycine at codon 280 of the BRIP1 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on protein structure and function. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003227799 SCV003924414 uncertain significance Familial cancer of breast 2023-05-17 criteria provided, single submitter clinical testing a variant of uncertain significance was detected in the BRIP1 gene (c.839A>G). This missense variant replaces aspartic acid with glycine at codon 280 of the BRIP1 protein.This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD) nor in our local database. This amino acid position is not well conserved ( PhyloP=5.6) Computational prediction tools analyses are inconclusive regarding the impact of this variant on protein structure and function. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. 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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