Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Evidence- |
RCV000661321 | SCV000783588 | 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. |
| Labcorp Genetics |
RCV000464144 | SCV000549392 | pathogenic | Hereditary breast ovarian cancer syndrome | 2016-05-20 | criteria provided, single submitter | clinical testing | While this particular variant has not been reported in the literature, truncating variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 7 nucleotides from exon 10 of the BRCA1 mRNA (c.2311_2317delTTGGTAC), causing a frameshift at codon 773. This creates a premature translational stop signal (p.Pro773Leufs*17) and is expected to result in an absent or disrupted protein product. |
| Color Diagnostics, |
RCV001191805 | SCV001359712 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-05-06 | criteria provided, single submitter | clinical testing | This variant deletes 7 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. 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. |
| Foulkes Cancer Genetics LDI, |
RCV000735503 | SCV000863641 | pathogenic | Breast and/or ovarian cancer | 2016-05-05 | no assertion criteria provided | clinical testing |