ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.2333G>C (p.Ter778Ser)

dbSNP: rs776958611
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773482 SCV000907176 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-01 criteria provided, single submitter clinical testing
Invitae RCV001049671 SCV001213736 uncertain significance Familial cancer of breast 2023-03-26 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 628819). 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 disrupts the translational stop signal of the BARD1 mRNA. It is expected to extend the length of the BARD1 protein by 10 additional amino acid residues.
Ambry Genetics RCV000773482 SCV002732514 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-13 criteria provided, single submitter clinical testing The c.2333G>C variant (also known as p.*778Sext*10), located in coding exon 11 of the BARD1 gene, results from a G to C substitution at nucleotide position 2333.This alteration disrupts the stop codon of the BARD1 gene and is predicted to preserve the native sequence while resulting in the elongation of the protein by 10 amino acids. The exact functional effect of the additional amino acids is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001049671 SCV004034286 uncertain significance Familial cancer of breast 2023-09-13 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the BARD1 mRNA. It is expected to extend the length of the BARD1 protein by 10 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). The exact functional effect of the additional amino acids is unknown. 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: 628819) classified as uncertain significant . In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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