Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001014277 | SCV001174969 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-02-28 | criteria provided, single submitter | clinical testing | The c.2061_2064delGACA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of 4 nucleotides at nucleotide positions 2061 to 2064, causing a translational frameshift with a predicted alternate stop codon (p.T688Vfs*12). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Labcorp Genetics |
RCV001215770 | SCV001387532 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-11-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr688Valfs*12) 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 variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 820627). For these reasons, this variant has been classified as Pathogenic. |
| Color Diagnostics, |
RCV001014277 | SCV001736416 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-01-11 | criteria provided, single submitter | clinical testing | This variant deletes 4 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. |
| Baylor Genetics | RCV003229610 | SCV004211778 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2024-03-19 | criteria provided, single submitter | clinical testing | |
| KCCC/NGS Laboratory, |
RCV003229610 | SCV003927165 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-05-05 | no assertion criteria provided | clinical testing | A known pathogenic mutation was detected in the BRCA1 gene (c.2061_2064delGACA). This sequence change creates a premature translational stop signal (p.Thr688Valfs*12) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in individuals with BRCA1-related conditions (PMID 20104584). Clinvar has an entry for this variant (820627) with 3 submissions, all of which describe it as pathogenic, two stars, no conflicts. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). Therefore, this variant has been classified as Pathogenic. Pathogenic mutations in the BRCA1 gene cause Hereditary Breast/Ovarian Cancer syndrome (HBOC). |