Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001215941 | SCV001387710 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-01-12 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr2047*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 26852015). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 945325). |