Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222786 | SCV001394902 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-08-07 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln3026Thrfs*18) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BRCA2-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). |
Ambry Genetics | RCV002375211 | SCV002684665 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-12-21 | criteria provided, single submitter | clinical testing | The c.9075dupA pathogenic mutation, located in coding exon 22 of the BRCA2 gene, results from a duplication of A at nucleotide position 9075, causing a translational frameshift with a predicted alternate stop codon (p.Q3026Tfs*18). 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. |