Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525032 | SCV000636032 | pathogenic | Hereditary breast ovarian cancer syndrome | 2020-08-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in individual(s) with breast cancer (PMID: 30875412). ClinVar contains an entry for this variant (Variation ID: 254468). This variant is present in population databases (rs760188581, ExAC 0.006%). This sequence change creates a premature translational stop signal (p.Ala1789Ilefs*4) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. |