ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1758del (p.Ser586fs)

dbSNP: rs1559387024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000708903 SCV000837955 likely pathogenic Familial cancer of breast 2018-07-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003584731 SCV004362637 pathogenic Hereditary cancer-predisposing syndrome 2022-12-05 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 8 of the BARD1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in over five Brazilian individuals affected with breast cancer (PMID: 35264596, 35980532). 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 Pathogenic.

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