ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1904-2_1904-1del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002408309 SCV002718187 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-28 criteria provided, single submitter clinical testing The c.1904-2_1904-1delAG intronic variant, located in intron 9 of the BARD1 gene, results from a deletion of two nucleotides within intron 9 of the BARD1 gene. Alterations that disrupt the canonical splice site are expected to result in aberrant splicing. This nucleotide region is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Laboratory for Genotyping Development, RIKEN RCV003164546 SCV002758369 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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