Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562658 | SCV000660918 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-03-30 | criteria provided, single submitter | clinical testing | The p.Q449* pathogenic mutation (also known as c.1345C>T), located in coding exon 5 of the BARD1 gene, results from a C to T substitution at nucleotide position 1345. This changes the amino acid from a glutamine 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. |
Cancer Genomics Group, |
RCV001030609 | SCV001193495 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2019-05-01 | criteria provided, single submitter | research | |
Myriad Genetics, |
RCV003335479 | SCV004044941 | 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. |
Invitae | RCV003335479 | SCV004540539 | pathogenic | Familial cancer of breast | 2023-02-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln449*) 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: 29338689, 32566746). ClinVar contains an entry for this variant (Variation ID: 479182). For these reasons, this variant has been classified as Pathogenic. |
Laboratory for Genotyping Development, |
RCV003159956 | SCV002758090 | pathogenic | Gastric cancer | 2021-07-01 | no assertion criteria provided | research |