ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.514G>A (p.Glu172Lys)

gnomAD frequency: 0.00001  dbSNP: rs1260635377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645515 SCV000767261 uncertain significance Multiple endocrine neoplasia type 4 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 172 of the CDKN1B protein (p.Glu172Lys). This variant is present in population databases (no rsID available, gnomAD 0.002%). This missense change has been observed in individual(s) with childhood acute lymphoblastic leukemia (PMID: 11986963). ClinVar contains an entry for this variant (Variation ID: 536838). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004948524 SCV005559219 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-29 criteria provided, single submitter clinical testing The p.E172K variant (also known as c.514G>A), located in coding exon 2 of the CDKN1B gene, results from a G to A substitution at nucleotide position 514. The glutamic acid at codon 172 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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