Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000477785 | SCV000783351 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-12-15 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Department of Medical Genetics, |
RCV000477785 | SCV000564380 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-02-01 | criteria provided, single submitter | clinical testing | |
Yang An- |
RCV000504599 | SCV000583407 | pathogenic | Breast neoplasm | criteria provided, single submitter | clinical testing | ||
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985405 | SCV001133562 | pathogenic | not provided | 2018-09-24 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity. |
Invitae | RCV003644985 | SCV004539031 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-03-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 417831). This premature translational stop signal has been observed in individual(s) with a personal and/or family history of breast and/or ovarian cancer (PMID: 29339979, 29566657). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Asn1215Ilefs*2) 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). |