ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter)

dbSNP: rs777937955
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438118 SCV000517106 pathogenic not provided 2015-05-14 criteria provided, single submitter clinical testing This pathogenic variant is denoted BARD1 c.1622C>A at the cDNA level and p.Ser541Ter (S541X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Color Diagnostics, LLC DBA Color Health RCV000582853 SCV000688141 pathogenic Hereditary cancer-predisposing syndrome 2020-05-14 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 7 of the BARD1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in an individual affected with triple-negative breast cancer (PMID: 27083178). 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.
Invitae RCV001388794 SCV001589933 pathogenic Familial cancer of breast 2023-09-10 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with triple negative breast cancer (PMID: 27083178). This sequence change creates a premature translational stop signal (p.Ser541*) in the BARD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 379750). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000438118 SCV004026394 pathogenic not provided 2023-05-16 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001388794 SCV004043238 pathogenic Familial cancer of breast 2023-05-23 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 RCV001388794 SCV004217313 pathogenic Familial cancer of breast 2022-11-09 criteria provided, single submitter clinical testing

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