ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.2002-2A>G

dbSNP: rs876658260
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002028506 SCV002283652 uncertain significance Familial cancer of breast 2021-02-03 criteria provided, single submitter clinical testing 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with breast cancer (PMID: 28715532). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 10 of the BARD1 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product.
Myriad Genetics, Inc. RCV002028506 SCV004044165 likely pathogenic Familial cancer of breast 2023-05-25 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.
CeGaT Center for Human Genetics Tuebingen RCV003434380 SCV004151313 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing BARD1: PM2
Baylor Genetics RCV002028506 SCV005054619 uncertain significance Familial cancer of breast 2024-01-17 criteria provided, single submitter clinical testing

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