ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2258-5T>G

dbSNP: rs1555590588
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532697 SCV000633599 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-10-08 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the BRIP1 gene. It does not directly change the encoded amino acid sequence of the BRIP1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 461099). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Ambry Genetics RCV002448660 SCV002737802 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-02 criteria provided, single submitter clinical testing The c.2258-5T>G intronic variant results from a T to G substitution 5 nucleotides upstream from coding exon 15 in the BRIP1 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of 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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