ClinVar Miner

Submissions for variant NM_000077.4(CDKN2A):c.342C>G (p.Pro114=) (rs878853648)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226137 SCV000283444 likely benign Hereditary melanoma 2017-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000486683 SCV000565747 uncertain significance not specified 2017-05-04 criteria provided, single submitter clinical testing This variant is denoted CDKN2A c.385C>G at the cDNA level, p.Arg129Gly (R129G) at the protein level, and results in the change of an Arginine to a Glycine (CGT>GGT) 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.Pro114Pro). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. CDKN2A c.385C>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Arginine and Glycine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. CDKN2A c.385C>G occurs at a position that is not conserved and is not located in a known functional domain (UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether CDKN2A c.385C>G is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000570995 SCV000669204 likely benign Hereditary cancer-predisposing syndrome 2016-06-29 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color Health, Inc RCV000570995 SCV000911677 likely benign Hereditary cancer-predisposing syndrome 2018-10-11 criteria provided, single submitter clinical testing

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