ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.216-6T>A

dbSNP: rs1695570324
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059733 SCV001224377 uncertain significance Familial cancer of breast 2020-04-27 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. 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 not been reported in the literature in individuals with BARD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 2 of the BARD1 gene. It does not directly change the encoded amino acid sequence of the BARD1 protein.
Color Diagnostics, LLC DBA Color Health RCV001525519 SCV001735656 uncertain significance Hereditary cancer-predisposing syndrome 2020-05-26 criteria provided, single submitter clinical testing This variant causes a T to A nucleotide substitution at the -6 position of intron 2 of the BARD1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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