ClinVar Miner

Submissions for variant NM_000417.3(IL2RA):c.484G>A (p.Gly162Ser)

gnomAD frequency: 0.00015  dbSNP: rs146966522
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795536 SCV000935001 uncertain significance Immunodeficiency due to CD25 deficiency 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 162 of the IL2RA protein (p.Gly162Ser). This variant is present in population databases (rs146966522, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with IL2RA-related conditions. ClinVar contains an entry for this variant (Variation ID: 642134). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Baylor Genetics RCV000795536 SCV001524751 uncertain significance Immunodeficiency due to CD25 deficiency 2019-10-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004629329 SCV005125096 uncertain significance not specified 2024-05-29 criteria provided, single submitter clinical testing The c.484G>A (p.G162S) alteration is located in exon 4 (coding exon 4) of the IL2RA gene. This alteration results from a G to A substitution at nucleotide position 484, causing the glycine (G) at amino acid position 162 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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