Associated disorders

The RAC2 gene is associated with autosomal dominant neutrophil immunodeficiency syndrome (MedGen UID: 374920) and autosomal recessive common variable immunodeficiency.

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Pathogenic variants in RAC2 are a rare cause of common variable immunodeficiency (CVID). At this time, the percentage of CVID that can be attributed to pathogenic variants in RAC2 is unknown. Pathogenic variants in RAC2 are a rare cause of neutrophil immunodeficiency syndrome. At this time, the percentage of neutrophil immunodeficiency syndrome that can be attributed to pathogenic variants in RAC2 is unknown.

The RAC2 gene encodes a member of the Rho GTPases, a group of small signaling molecules that activate various cellular signaling pathways leading to events such as actin polymerization and the formation of a reduced NADPH oxidase complex. In leukocytes, Rho GTPases participate in the tightly controlled process of transendothelial migration as well as chemotaxis in response to immune system stimulation.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
RAC2 NM_002872.4