ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.364+1G>A

dbSNP: rs2106134408
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001804278 SCV002052259 likely pathogenic Hereditary cancer-predisposing syndrome 2021-05-17 criteria provided, single submitter clinical testing This variant causes a G to A nucleotide substitution at the +1 position of intron 3 of the BARD1 gene. Although this prediction has not been confirmed in published RNA studies, this variant is expected to result in an absent or disrupted protein product. To our knowledge, 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). Loss of BARD1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic.
Ambry Genetics RCV001804278 SCV002617826 likely pathogenic Hereditary cancer-predisposing syndrome 2020-10-12 criteria provided, single submitter clinical testing The c.364+1G>A intronic variant results from a G to A substitution one nucleotide after coding exon 3 of the BARD1 gene. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). 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. RCV003336439 SCV004043249 likely pathogenic Familial cancer of breast 2023-05-18 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.
Baylor Genetics RCV003336439 SCV004217353 likely pathogenic Familial cancer of breast 2021-05-18 criteria provided, single submitter clinical testing

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