ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1338C>G (p.Tyr446Ter)

dbSNP: rs761702998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561666 SCV000665770 pathogenic Hereditary cancer-predisposing syndrome 2016-12-14 criteria provided, single submitter clinical testing The p.Y446* pathogenic mutation (also known as c.1338C>G), located in coding exon 5 of the BARD1 gene, results from a C to G substitution at nucleotide position 1338. This changes the amino acid from a tyrosine to a stop codon within coding exon 5. 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.
Invitae RCV001060889 SCV001225606 pathogenic Familial cancer of breast 2022-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 481402). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr446*) 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).
Myriad Genetics, Inc. RCV001060889 SCV004044367 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.

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