Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001867901 | SCV002179347 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-05-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys903*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features consistent with Fanconi anemia in the homozygous state. Additionally, this nonsense change has been observed in individual(s) with a personal and/or family history of breast and/or ovarian cancer in the heterozygous state (PMID: 29133208, 24549055). ClinVar contains an entry for this variant (Variation ID: 495221). This variant is not present in population databases (ExAC no frequency). |
OMIM | RCV000585811 | SCV000693743 | pathogenic | Fanconi anemia, complementation group S | 2019-04-16 | no assertion criteria provided | literature only | |
OMIM | RCV000585837 | SCV000693744 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2019-04-16 | no assertion criteria provided | literature only |