ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.961A>T (p.Lys321Ter)

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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 RCV003301726 SCV004001969 pathogenic Hereditary cancer-predisposing syndrome 2023-05-18 criteria provided, single submitter clinical testing The p.K321* pathogenic mutation (also known as c.961A>T), located in coding exon 4 of the BARD1 gene, results from an A to T substitution at nucleotide position 961. This changes the amino acid from a lysine to a stop codon within coding exon 4. 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. RCV003336841 SCV004043627 pathogenic Familial cancer of breast 2023-05-19 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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