ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.975_976del (p.His325fs)

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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 RCV002387098 SCV002693917 pathogenic Hereditary cancer-predisposing syndrome 2015-12-30 criteria provided, single submitter clinical testing The c.975_976delCA pathogenic mutation, located in coding exon 4 of the BARD1 gene, results from a deletion of two nucleotides at nucleotide positions 975 and 976, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Myriad Genetics, Inc. RCV003336584 SCV004043443 pathogenic Familial cancer of breast 2023-05-22 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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