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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Novel variant in RAG2, identified through data min ...
Novel variant in RAG2, identified through data mining, is linked to rare forms of primary immunodeficiencies
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A novel variant in the RAG2 gene has been identified through data mining and is linked to rare forms of primary immunodeficiencies. RAG1 and RAG2 are genes involved in the immune system and mutations in these genes can lead to primary immunodeficiencies. The variant, rs121918573, has been mapped to the zinc-finger motif of the PHD finger domain in RAG2. It is classified as a variant of uncertain significance based on current knowledge. Computational analysis suggests that this variant may have a deleterious effect on the protein structure and function. Further analysis using various predictive tools indicates that the variant may have a loss-of-function effect on RAG2. This variant has been observed in patients with severe combined immunodeficiency (SCID) and is a rare variant with a low allele frequency. It has not been reported in a homozygous state and is not associated with a family history of de novo. Based on the accumulated evidence, the variant is considered to be likely pathogenic according to ACMG standards. Further research is needed to fully understand the molecular epidemiology and pathogenicity of this variant. The study used various tools and databases for sequence analysis, visualization, and assessment of the mutation's impact on protein structure and function. This research project was supported by the Johns Hopkins University Biotechnology Program.
Asset Subtitle
Presenting Author - Irina St Louis, PhD;
Meta Tag
Bioinformatics
Databases
Identification of Disease Genes
Structure/Function
Variant Detection
Presenting Author
Irina St Louis, PhD
Keywords
RAG2 gene
variant
primary immunodeficiencies
mutations
zinc-finger motif
deleterious effect
severe combined immunodeficiency
pathogenic
protein structure
protein function
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