ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1935_1954del (p.Cys645_Glu652delinsTer)

dbSNP: rs587780024
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256144 SCV000322480 likely pathogenic not provided 2015-12-03 criteria provided, single submitter clinical testing This deletion of 20 nucleotides is denoted BARD1 c.1935_1954del20 at the cDNA level and p.Cys645Ter (C645X) at the protein level. The normal sequence, with the bases that are deleted in braces, is TATG[del20]AAAT. The deletion creates a nonsense variant, which changes a Cysteine to a premature stop codon. This variant has not been previously reported in the literature to our knowledge. BARD1 c.1935_1954del20 results in the loss of 133 amino acids at the end of the protein, which might affect normal function. This variant occurs in the BRCT1 and BRCT2 domains, which may be disrupted by this deletion (UniProt). However, due to the location of the newly created nonsense codon, the transcript is not expected to undergo nonsense-mediated decay and could therefore encode a truncated protein that retains some normal function. BARD1 c.1935_1954del20 was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Based on currently available information, we consider BARD1 c.1935_1954del20 to be a likely pathogenic variant.
Myriad Genetics, Inc. RCV003335294 SCV004045290 pathogenic Familial cancer of breast 2023-05-25 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.
Baylor Genetics RCV003335294 SCV004217316 likely pathogenic Familial cancer of breast 2022-10-11 criteria provided, single submitter clinical testing
Laboratory for Genotyping Development, RIKEN RCV003165702 SCV002758366 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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