Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000130689 | SCV000185576 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-10-02 | criteria provided, single submitter | clinical testing | The c.5331_5333delGAA variant (also known as p.K1777del) is located in coding exon 10 of the BRCA2 gene. This variant results from an in-frame GAA deletion at nucleotide positions 5331 to 5333. This results in the in-frame deletion of a lysine at codon 1777. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV000195438 | SCV000254191 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2024-01-27 | criteria provided, single submitter | clinical testing | This variant, c.5331_5333del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Lys1777del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 91411). 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. |
| Color Diagnostics, |
RCV000130689 | SCV000683697 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-07-22 | criteria provided, single submitter | clinical testing | This variant causes a single amino acid deletion from the BRCA2 protein. To our knowledge, functional studies have not been reported for this variant. 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). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759621 | SCV000889061 | uncertain significance | not provided | 2019-08-16 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000759621 | SCV001777964 | uncertain significance | not provided | 2023-08-17 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as c.5559_5561delGAA; c.5328_5330delGAAl; c.5559del3 |
| Baylor Genetics | RCV004566935 | SCV005058983 | uncertain significance | Familial cancer of breast | 2024-03-19 | criteria provided, single submitter | clinical testing | |
| Sharing Clinical Reports Project |
RCV000076928 | SCV000108725 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2012-07-19 | no assertion criteria provided | clinical testing |