Associated disorders

The RINT1 gene has preliminary evidence supporting a correlation with breast cancer.

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The RINT1 gene encodes a tumor-suppressor protein involved in regulation of membrane traffic between the Golgi apparatus and the endoplasmic reticulum. It may also play a role in cell cycle checkpoint control and is essential for telomere length control.

RINT1 heterozygote
OMIM: 610089

Clinical condition
There is preliminary evidence suggesting variants in RINT1 may be associated with a predisposition to breast cancer (PMID: 25050558). This preliminary evidence, however, is currently insufficient to make a clear determination regarding this association. Therefore, Invitae considers RINT1 a “preliminary evidence” gene for breast cancer. preliminary evidence genes are selected from an extensive review of the literature and expert recommendations, but the association between the gene and the specific condition has not been completely established. This uncertainty may be resolved as new information becomes available, and therefore clinicians may continue to order these preliminary evidence genes.

Gene information
RINT1 is a tumor suppressor gene. It is involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum. It may also play a role in cell-cycle checkpoint control and is essential for telomere length control (PMID: 1747054; UniProt consortium, UniProtKB – Q6NUQ1 (RINT1_HUMAN; http://www.uniprot.org/uniprot/Q6P1J9. Accessed October 2015). If there is a pathogenic variant in this gene that prevents it from normally functioning, there may be an increased risk to develop certain types of cancers.

Variants in RINT1 have autosomal dominant inheritance. This means that an individual with a variant has a 50% chance of passing that variant on to their offspring.

Because the evidence regarding RINT1 and breast cancer risk is limited and preliminary, there are no guidelines or recommendations to suggest alteration to medical management based solely on the presence of a RINT1 variant. However, an individual’s cancer risk and medical management are not determined by genetic test results alone. Overall cancer risk assessment incorporates additional factors including personal medical history, family history, and any available genetic information that may result in a personalized plan for cancer prevention and surveillance.

It is advantageous to know if a variant is present even though the data regarding RINT1 are currently limited. At-risk relatives can be identified, allowing pursuit of a diagnostic evaluation. In addition, the available information regarding hereditary cancer susceptibility genes is constantly evolving and clinically relevant RINT1 data is likely to become available in the future. Awareness of this variant encourages patients and their providers to inform at-risk family members, to diligently follow standard screening protocols, and to be vigilant in maintaining close and regular contact with their local genetics clinic in anticipation of new information.

Date reviewed: September 2015

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
RINT1 NM_021930.4