ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.474A>G (p.Ala158=)

dbSNP: rs745699485
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162678 SCV000213129 likely benign Hereditary cancer-predisposing syndrome 2015-02-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl RCV000412045 SCV000488541 likely benign Familial cancer of breast 2016-04-20 criteria provided, single submitter clinical testing
Invitae RCV000412045 SCV000560992 likely benign Familial cancer of breast 2023-10-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162678 SCV000684645 likely benign Hereditary cancer-predisposing syndrome 2016-12-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174909 SCV001338341 likely benign not specified 2020-02-29 criteria provided, single submitter clinical testing
GeneDx RCV001711324 SCV001946046 benign not provided 2015-09-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001174909 SCV002070797 likely benign not specified 2019-06-12 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162678 SCV002537440 likely benign Hereditary cancer-predisposing syndrome 2021-06-20 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001711324 SCV002774140 likely benign not provided 2021-07-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000412045 SCV004020086 benign Familial cancer of breast 2023-03-08 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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