ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1936-5T>G

gnomAD frequency: 0.00004  dbSNP: rs769767296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001525426 SCV001735519 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-30 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -5 position of intron 13 of the BRIP1 gene. 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 been identified in 4/282592 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.
Ambry Genetics RCV001525426 SCV002723811 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-19 criteria provided, single submitter clinical testing The c.1936-5T>G intronic variant results from a T to G substitution 5 nucleotides upstream from coding exon 13 in the BRIP1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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