ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1473+3A>G

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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 RCV002396963 SCV002700652 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-05 criteria provided, single submitter clinical testing The c.1473+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 9 in the BRIP1 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003095207 SCV003476535 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-08-10 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV005055195 SCV005689380 uncertain significance Fanconi anemia complementation group J 2025-02-05 criteria provided, single submitter clinical testing The BRIP1 c.1473+3A>G intronic change results in an A to G substitution at the +3 position of intron 10 of the BRIP1 gene. Algorithms that predict the impact of sequence changes on splicing are inconclusive. This variant is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). This variant has not been reported in individuals with hereditary breast and ovarian cancer syndrome or Fanconi anemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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