ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)

gnomAD frequency: 0.00001  dbSNP: rs758102180
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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 RCV000162813 SCV000213295 likely benign Hereditary cancer-predisposing syndrome 2015-02-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV000410591 SCV000489152 likely benign Familial cancer of breast 2016-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410591 SCV000561017 likely benign Familial cancer of breast 2024-02-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506278 SCV000601149 uncertain significance not specified 2017-07-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162813 SCV000684580 likely benign Hereditary cancer-predisposing syndrome 2017-03-13 criteria provided, single submitter clinical testing
GeneDx RCV001706070 SCV001882418 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000506278 SCV001983623 likely benign not specified 2021-09-10 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162813 SCV002537044 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-03 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV001706070 SCV002821114 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing CHEK2: BP4, BP7
Myriad Genetics, Inc. RCV000410591 SCV004020136 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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