Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001056564 | SCV001221014 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-11-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser2309Alafs*7) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002365714 | SCV002662052 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-05-28 | criteria provided, single submitter | clinical testing | The c.6925delA variant, located in coding exon 11 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 6925, causing a translational frameshift with a predicted alternate stop codon (p.S2309Afs*7). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, this variant occurs in an exon that is dispensable in biologically relevant transcripts. Note, this exon is also referred to as Exon 12 in the literature (Li L et al. Hum. Mutat. 2009 Nov;30(11):1543-50). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |