ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1194A>G (p.Gln398=) (rs200046373)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000581041 SCV000685699 likely benign Hereditary cancer-predisposing syndrome 2017-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000422717 SCV000527879 likely benign not specified 2016-05-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000590189 SCV000697938 uncertain significance not provided 2016-10-28 criteria provided, single submitter clinical testing Variant summary: The c.1194A>G (p.Gln398=) in NBN gene is a synonymous change that involves a non-conserved nucleotide. 4/5 programs in Alamut predict that this variant may affect a normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is absent from the control population dataset of ExAC. The variant has not, to our knowledge, been reported in affected individuals or cited by a reputable database/clinical laboratory. Taking together, the variant was classified as VUS-Possibly Benign.
Invitae RCV000636755 SCV000758196 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2017-12-15 criteria provided, single submitter clinical testing This sequence change affects codon 398 of the NBN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NBN protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a NBN-related disease. ClinVar contains an entry for this variant (Variation ID: 386302 Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on NBN function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.