Associated disorders

The ATM gene is associated with an increased risk for autosomal dominant breast cancer and possibly other cancers in individuals who carry a single pathogenic ATM variant. Additionally, the ATM gene is associated with autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439).

The gene ATM (ataxia telangiectasia mutated) encodes a protein that is an important cell cycle checkpoint kinase that phosphorylates. It functions as a regulator of a wide variety of downstream proteins, including tumor-suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways required for cell response to DNA damage and for genome stability.

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
ATM NM_000051.3