ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1008+8A>G (rs139986197)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000588387 SCV000561014 likely benign not provided 2018-12-18 criteria provided, single submitter clinical testing
Color RCV000584710 SCV000689622 likely benign Hereditary cancer-predisposing syndrome 2017-06-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588387 SCV000698759 benign not provided 2017-08-29 criteria provided, single submitter clinical testing Variant summary: c.1008+8A>G in CHEK2 gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect a normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of gnomAD at frequency of 0.000047 (13/ 277160 chrs tested), exclusively in individuals of East Asian descent (0.00069; 13/18868 chrs tested). The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant of 0.000024, suggesting that it is likely to be a common polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals in published reports but is cited as Likely Benign by reputable database/clinical laboratory. Taking together, the variant was classified as Benign.
GeneDx RCV000600589 SCV000723465 likely benign not specified 2017-10-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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