ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.447A>G (p.Thr149=) (rs2069501)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163324 SCV000213852 benign Hereditary cancer-predisposing syndrome 2015-01-07 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV001083024 SCV000261081 benign Hereditary melanoma 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000253216 SCV000301906 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000412354 SCV000488604 benign Cutaneous malignant melanoma 3 2016-06-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000253216 SCV000601005 benign not specified 2017-04-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586842 SCV000695317 benign not provided 2016-01-25 criteria provided, single submitter clinical testing Variant summary: The c.447A>G in CDK4 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect 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 ExAC at an overall frequency of 0.23%, being most prevalent in individuals of African descent (2.5%), including several homozygotes. The observed frequency exceeds the maximum expected allele frequency for a pathogenic CDK4 variant of 0.002%, suggesting that it is a common polymorphism. The variant has been reported as Benign by reputable database/clinical laboratory without providing evidence to independently evaluate. Taken together, this variant has been classified as Benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586842 SCV000889266 benign not provided 2017-04-26 criteria provided, single submitter clinical testing

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