ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1497A>G (p.Gln499=)

dbSNP: rs1555603597
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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 RCV000531033 SCV000633559 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-05-29 criteria provided, single submitter clinical testing
GeneDx RCV002282210 SCV002571504 uncertain significance not provided 2022-03-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Ambry Genetics RCV002395347 SCV002700508 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-22 criteria provided, single submitter clinical testing The c.1497A>G variant (also known as p.Q499Q), located in coding exon 10, results from an A to G substitution at nucleotide position 1497 of the BRIP1 gene. This nucleotide substitution does not change the amino acid at codon 499. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive and direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this variant remains unclear.
Color Diagnostics, LLC DBA Color Health RCV002395347 SCV004362937 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-12 criteria provided, single submitter clinical testing This variant is located in the BRIP1 protein. 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 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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