Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000225498 | SCV000282295 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-04-22 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Gene |
RCV000585651 | SCV000693522 | pathogenic | not provided | 2020-01-01 | criteria provided, single submitter | clinical testing | This sequence change inserts one base in exon 10 of the BRCA1 mRNA (c.2933dupA), causing a frameshift at codon 978. This creates a premature translational stop signal p.(Tyr978*) at this position and is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. The mutation database ClinVar contains an entry for this variant (Variation ID: 236270). |
Invitae | RCV000692747 | SCV000820587 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-04-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr978*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 29310832, 29335924). ClinVar contains an entry for this variant (Variation ID: 236270). For these reasons, this variant has been classified as Pathogenic. |
Color Diagnostics, |
RCV001184201 | SCV001350122 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-15 | criteria provided, single submitter | clinical testing | This variant is located in the BRCA1 protein. Splice site prediction tools suggest that this variant may not impact RNA splicing. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Department of Molecular Diagnostics, |
RCV000225498 | SCV001499616 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2020-04-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000585651 | SCV001747807 | pathogenic | not provided | 2021-05-01 | criteria provided, single submitter | clinical testing |