Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Evidence- |
RCV000112310 | SCV000299440 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
| Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000112310 | SCV000325580 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000583510 | SCV000688425 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-15 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 6 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. 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. |
| Invitae | RCV001387926 | SCV001588683 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe107Leufs*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 premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 26187060). ClinVar contains an entry for this variant (Variation ID: 54799). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV000583510 | SCV002612221 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-04-18 | criteria provided, single submitter | clinical testing | The c.321delT pathogenic mutation, located in coding exon 5 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 321, causing a translational frameshift with a predicted alternate stop codon (p.F107Lfs*12). This alteration was identified amongst a cohort of 207 Japanese ovarian cancer patients (Sugino K et al. Sci Rep, 2019 11;9:17808). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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. |
| Breast Cancer Information Core |
RCV000112310 | SCV000145049 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-02-20 | no assertion criteria provided | clinical testing | |
| Laboratory for Genotyping Development, |
RCV003162406 | SCV002758346 | pathogenic | Gastric cancer | 2021-07-01 | no assertion criteria provided | research |