ClinVar Miner

Submissions for variant NM_007194.3:c.(319+1_320-1)_(846+1_847-1)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001376096 SCV001573110 likely pathogenic Hereditary cancer-predisposing syndrome 2019-02-14 criteria provided, single submitter clinical testing The EX2_6dup gross duplication spans coding exons 2 through 6 in the CHEK2 gene; however, the exact breakpoints of the duplication were not determined. Additional analysis identified this duplication in tandem in at least one proband and is predicted to result in a premature truncation causing a translational frameshift with a predicted alternate stop codon (Ambry internal data). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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