ClinVar Miner

Submissions for variant NM_000077.4(CDKN2A):c.282G>A (p.Leu94=) (rs1064793589)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483309 SCV000566536 uncertain significance not provided 2015-05-07 criteria provided, single submitter clinical testing This variant is denoted CDKN2A c.325G>A at the cDNA level. The CDKN2A gene encodes the p16 protein and, using an alternate reading frame, the p14-ARF protein as well. At the protein level this variant is denoted p.Gly109Ser (G109S), and results in the change of a Glycine to a Serine (GGT>AGT) of the p14-ARF protein. Of note, this variant also results in a change to the p16 protein; however, that amino acid substitution is silent (p.Leu94Leu). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. CDKN2A c.325G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Glycine and Serine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. CDKN2A c.325G>A occurs at a position that is not conserved and is not located in a known functional domain. In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on the currently available information, we consider this to be a variant of uncertain significance.
Ambry Genetics RCV001016714 SCV001177702 likely benign Hereditary cancer-predisposing syndrome 2019-10-29 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001035514 SCV001198843 likely benign Hereditary melanoma 2020-10-27 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.