ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.496C>T (p.Gln166Ter)

dbSNP: rs786202500
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165343 SCV000216067 pathogenic Hereditary cancer-predisposing syndrome 2021-09-09 criteria provided, single submitter clinical testing The p.Q166* pathogenic mutation (also known as c.496C>T), located in coding exon 4 of the BARD1 gene, results from a C to T substitution at nucleotide position 496. This changes the amino acid from a glutamine to a stop codon within coding exon 4. 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.
GeneDx RCV000437177 SCV000517375 pathogenic not provided 2015-05-29 criteria provided, single submitter clinical testing This pathogenic variant is denoted BARD1 c.496C>T at the cDNA level and p.Gln166Ter (Q166X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>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.
Invitae RCV000691023 SCV000818762 pathogenic Familial cancer of breast 2024-01-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln166*) 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 present in population databases (rs786202500, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 185846). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV000691023 SCV004044291 pathogenic Familial cancer of breast 2023-05-18 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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