Submissions for variant NM_007194.4(CHEK2):c.260_261insCCAAGAGCCTGAGGA (p.77DQEPE[3])

dbSNP: rs1555932249

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001176255	SCV001340147	uncertain significance	Hereditary cancer-predisposing syndrome	2020-01-14	criteria provided, single submitter	clinical testing	This variant results in a duplication of 5 amino acids in the CHEK2 protein. To our knowledge, functional studies have not been performed 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.
Ambry Genetics	RCV001176255	SCV002743332	uncertain significance	Hereditary cancer-predisposing syndrome	2022-04-29	criteria provided, single submitter	clinical testing	The c.260_261ins15 variant (also known as p.D82_E86dup), located in coding exon 1 of the CHEK2 gene, results from an in-frame 15 nucleotide insertion at nucleotide positions 260 to 261. This results in the insertion of 5 extra residues between codons 82 and 86. This amino acid region is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.