ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.834T>C (p.Phe278=) (rs115576923)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079786 SCV000260163 likely benign Hereditary melanoma 2020-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000759742 SCV000528715 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575437 SCV000669090 likely benign Hereditary cancer-predisposing syndrome 2015-02-13 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759742 SCV000889272 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000424489 SCV000919119 likely benign not specified 2017-12-11 criteria provided, single submitter clinical testing Variant summary: The CDK4 c.834T>C (p.Phe278Phe) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SC35 and SRp40. However, these predictions have yet to be confirmed by functional studies. This variant was found in 13/277162 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.000458 (11/24022). This frequency is about 20 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 African origin. In addition, multiple clinical diagnostic laboratories/reputable databases 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; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely benign.
True Health Diagnostics RCV000575437 SCV000787992 likely benign Hereditary cancer-predisposing syndrome 2017-10-26 no assertion criteria provided clinical testing

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