Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001201861 | SCV001372952 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2021-12-06 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 933616). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.2029_2049del, results in the deletion of 7 amino acid(s) of the BRIP1 protein (p.Gly677_Val683del), but otherwise preserves the integrity of the reading frame. |
| Ambry Genetics | RCV003380871 | SCV004098106 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-06-22 | criteria provided, single submitter | clinical testing | The c.2029_2049del21 variant (also known as p.G677_V683del) is located in coding exon 13 of the BRIP1 gene. This variant results from an in-frame deletion of 21 nucleotides at nucleotide positions 2029 to 2049. This results in the in-frame deletion of 7 amino acids (GALLLSV) at codons 677 to 683. These amino acid positions are generally well conserved in available vertebrate species. This alteration was detected in a patient with a personal and family history of ovarian cancer (Flaum N et al. Genet Med, 2022 Dec;24:2578-2586). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |