ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.523-4T>A

gnomAD frequency: 0.00001  dbSNP: rs587780667
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085786 SCV000166200 likely benign Familial melanoma 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564591 SCV000669085 likely benign Hereditary cancer-predisposing syndrome 2021-09-17 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589608 SCV000695319 benign not provided 2017-05-08 criteria provided, single submitter clinical testing Variant summary: The CDK4 c.523-4T>A variant involves the alteration of a non-conserved intronic nucleotide and 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 10/121352 control chromosomes, predominantly observed in the South Asian subpopulation at a frequency of 0.000545 (9/16512). This frequency is about 27 times the estimated maximal expected allele frequency of a pathogenic CDK4 variant (0.00002), suggesting this is likely a benign polymorphism found primarily in the populations of South Asian origin. In addition, a clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Sema4, Sema4 RCV000564591 SCV002534256 benign Hereditary cancer-predisposing syndrome 2021-02-17 criteria provided, single submitter curation

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