Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000565570 | SCV000665785 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-09-16 | criteria provided, single submitter | clinical testing | The p.E270* pathogenic mutation (also known as c.808G>T), located in coding exon 4 of the BARD1 gene, results from a G to T substitution at nucleotide position 808. This changes the amino acid from a glutamic acid to a stop codon within coding exon 4. This alteration was detected in a cohort of 8085 consecutive unselected Chinese breast cancer patients who underwent multi-gene panel testing (Sun J et al. Clin Cancer Res, 2017 Oct;23:6113-6119). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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 | RCV000796390 | SCV000935902 | pathogenic | Familial cancer of breast | 2023-11-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu270*) 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 premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 28724667). ClinVar contains an entry for this variant (Variation ID: 481415). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000796390 | SCV004217323 | pathogenic | Familial cancer of breast | 2022-07-19 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000796390 | SCV004931414 | pathogenic | Familial cancer of breast | 2024-01-23 | 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. |