Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001064617 | SCV001229527 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-05-01 | 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.Tyr1552*) in the BRCA1 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 BRCA1-related conditions. However, different variants (c.4656C>A, c.4656C>G) giving rise to the same protein effect observed here (p.Tyr1552*) have been reported in individuals with with breast and/or ovarian cancer (PMID: 22970155, 28802053, 29446198). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). |