ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.755del (p.Pro252fs)

dbSNP: rs1553622471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533603 SCV000633061 pathogenic Familial cancer of breast 2022-03-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 460763). This sequence change creates a premature translational stop signal (p.Pro252Leufs*3) 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). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000571564 SCV000668245 pathogenic Hereditary cancer-predisposing syndrome 2017-01-13 criteria provided, single submitter clinical testing The c.755delC pathogenic mutation, located in coding exon 4 of the BARD1 gene, results from a deletion of one nucleotide at nucleotide position 755, causing a translational frameshift with a predicted alternate stop codon (p.P252Lfs*3). 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.

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