ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1314+5G>A

dbSNP: rs868089048
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000708906 SCV000837966 uncertain significance Familial cancer of breast 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010919 SCV001171184 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-16 criteria provided, single submitter clinical testing The c.1314+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 4 in the BARD1 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 donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Sema4, Sema4 RCV001010919 SCV002526999 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-09 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV000708906 SCV004371001 uncertain significance Familial cancer of breast 2024-08-30 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the BARD1 gene. It does not directly change the encoded amino acid sequence of the BARD1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with BARD1-related conditions (PMID: 35264596). ClinVar contains an entry for this variant (Variation ID: 584632). Variants that disrupt 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. 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.

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