Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000220664 | SCV000277733 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-15 | criteria provided, single submitter | clinical testing | The c.507_509delTGT variant (also known as p.F169_V170delinsL) is located in coding exon 3 of the CHEK2 gene. This variant results from a deletion of three nucleotides (TGT) at nucleotide positions 507 to 509. The phenylalanine and valine residues at codons 169 and 170 are replaced by a leucine residue. These amino acid positions are well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV000798479 | SCV000938097 | uncertain significance | Familial cancer of breast | 2022-01-21 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 233374). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.507_509del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the CHEK2 protein (p.Phe169_Val170delinsLeu). |