ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.824dup (p.Leu275fs)

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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 RCV003171424 SCV003854335 pathogenic Hereditary cancer-predisposing syndrome 2022-12-22 criteria provided, single submitter clinical testing The c.824dupT pathogenic mutation, located in coding exon 4 of the BARD1 gene, results from a duplication of T at nucleotide position 824, causing a translational frameshift with a predicted alternate stop codon (p.L275Ffs*3). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003336827 SCV004045268 pathogenic Familial cancer of breast 2023-05-19 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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