Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001325496 | SCV001516489 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-08-04 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1025208). This sequence change affects codon 2593 of the BRCA2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRCA2 protein. 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. RNA analysis provides insufficient evidence to determine the effect of this variant on BRCA2 splicing (Invitae). 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. |
| Ambry Genetics | RCV003355396 | SCV004052638 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-07 | criteria provided, single submitter | clinical testing | The c.7779A>T variant (also known as p.G2593G), located in coding exon 15 of the BRCA2 gene, results from an A to T substitution at nucleotide position 7779. This nucleotide substitution does not change the glycine at codon 2593. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and will result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |