Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000257068 | SCV000323544 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-10-18 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000257068 | SCV000325508 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000709479 | SCV000839264 | pathogenic | Hereditary breast ovarian cancer syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000709479 | SCV000955490 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-11-15 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 266323). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 27062684, 29446198). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser988Valfs*4) 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). |
Mendelics | RCV000257068 | SCV001140567 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436092 | SCV002750081 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-10-01 | criteria provided, single submitter | clinical testing | The c.2960dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 2960, causing a translational frameshift with a predicted alternate stop codon (p.S988Vfs*4). In a study of 1854 high-risk breast/ovarian cancer families in Italy, this alteration was detected in 5 families (Azzollini J et al. Eur. J. Intern. Med., 2016 Jul;32:65-71). 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. |
Baylor Genetics | RCV000257068 | SCV004211769 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2021-03-17 | criteria provided, single submitter | clinical testing |