Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000568904 | SCV000669298 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-27 | criteria provided, single submitter | clinical testing | The c.87_107dup21 variant (also known as p.S31_G37dup), located in coding exon 1 of the CHEK2 gene, results from an in-frame duplication of 21 nucleotides at nucleotide positions 87 to 107. This results in the duplication of 7 extra residues (SSSQSQG) between codons 31 and 37. This duplication is located in the SQ/TQ cluster domain of the CHEK2 gene (Matsuoka S, et al. Proc. Natl. Acad. Sci. U.S.A. 2000 Sep; 97(19):10389-94). 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 | RCV001858289 | SCV002226960 | uncertain significance | Familial cancer of breast | 2022-12-04 | 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: 483400). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. This variant is present in population databases (rs762863407, gnomAD 0.006%). This variant, c.87_107dup, results in the insertion of 7 amino acid(s) of the CHEK2 protein (p.Ser31_Gly37dup), but otherwise preserves the integrity of the reading frame. |
| Baylor Genetics | RCV001858289 | SCV004217669 | uncertain significance | Familial cancer of breast | 2023-06-02 | criteria provided, single submitter | clinical testing |