ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2493-1G>C

dbSNP: rs786203451
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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 RCV000166762 SCV000217575 likely pathogenic Hereditary cancer-predisposing syndrome 2019-08-06 criteria provided, single submitter clinical testing The c.2493-1G>C intronic variant, results from a G to C one nucleotide upstream from coding exon 17 of the BRIP1 gene. This nucleotide position is highly conserved in available vertebrate species. In one study, this alteration was observed in 1/3236 cases with invasive epithelial ovarian cancer and 0/3431 controls (Ramus SJ et al. J. Natl. Cancer Inst. 2015 Nov;107:). Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native acceptor splice site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.
Myriad Genetics, Inc. RCV003335166 SCV004043041 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.
Laboratory for Genotyping Development, RIKEN RCV003162712 SCV002758227 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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