ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2905+1G>T

dbSNP: rs876660203
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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 RCV001016897 SCV001177901 likely pathogenic Hereditary cancer-predisposing syndrome 2024-06-26 criteria provided, single submitter clinical testing The c.2905+1G>T intronic variant results from a G to T substitution one nucleotide after coding exon 18 of the BRIP1 gene. Alterations that disrupt the canonical splice site are expected to result in aberrant splicing. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. The resulting transcript is predicted to be in-frame and is not expected to trigger nonsense-mediated mRNAdecay; however, direct evidence is unavailable. The exact functional effect of the altered amino acid sequence is unknown; however, a significant portion of the protein is affected (Ambry internal data). This alteration is located 5' to the highly conserved BRCA1 interaction domain, necessary for proper protein function (Shiozaki EN et al. Mol. Cell, 2004 May;14:405-12). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is well conserved in available vertebrate species. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Myriad Genetics, Inc. RCV003336248 SCV004045019 likely pathogenic Familial cancer of breast 2023-06-07 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989624 SCV004807708 pathogenic Fanconi anemia complementation group J 2024-03-29 criteria provided, single submitter clinical testing

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