ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) (rs368570187)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254657 SCV000149923 likely benign not specified 2017-10-13 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.
Ambry Genetics RCV000116014 SCV000183752 likely benign Hereditary cancer-predisposing syndrome 2017-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Intact protein function observed in appropriate functional assay(s)
Invitae RCV000204285 SCV000260160 likely benign Familial cancer of breast 2018-01-06 criteria provided, single submitter clinical testing
Counsyl RCV000204285 SCV000488438 likely benign Familial cancer of breast 2016-03-29 criteria provided, single submitter clinical testing
Color RCV000116014 SCV000537466 likely benign Hereditary cancer-predisposing syndrome 2015-02-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000254657 SCV000601166 likely benign not specified 2017-06-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588933 SCV000698799 likely benign not provided 2017-02-02 criteria provided, single submitter clinical testing Variant summary: The CHEK2 c.410G>A (p.Arg137Gln) variant involves the alteration of a non-conserved nucleotide. 3/3 in silico tools predict a benign outcome for this substitution (SNPs&GO not captured due to low reliability index). This variant was found in 27/128390 control chromosomes at a frequency of 0.0002103, which is approximately 7 times the estimated maximal expected allele frequency of a pathogenic CHEK2 variant (0.0000284), suggesting this variant is likely a benign polymorphism. It was reported in breast cancer patients, however without strong evidence for pathogenicity. Moreover, the variant was reported not to have an impact on the expression, stability and kinase activity of CHEK2 further supporting neutrality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588933 SCV000889335 likely benign not provided 2018-07-10 criteria provided, single submitter clinical testing

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