Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001049032 | SCV001213065 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-12-11 | 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.Leu103*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002320276 | SCV002606412 | pathogenic | Hereditary cancer-predisposing syndrome | 2015-10-20 | criteria provided, single submitter | clinical testing | The c.308delT pathogenic mutation, located in coding exon 2 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 308, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |