Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ACT Genomics, |
RCV001169841 | SCV001250607 | pathogenic | Breast neoplasm | 2020-04-27 | criteria provided, single submitter | clinical testing | This frameshift deletion c.613_614delAG (Ser205PhefsTer9) in BRCA2 is predicted to result in the formation of a premature stop codon. This mutatiom is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. For these reasons, this variant has been classified as Pathogenic. |