ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.123del (p.Ser42fs) (rs587781891)

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
Ambry Genetics RCV000130227 SCV000185067 pathogenic Hereditary cancer-predisposing syndrome 2018-03-22 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000466522 SCV000553077 pathogenic Microcephaly, normal intelligence and immunodeficiency 2019-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser42Alafs*7) in the NBN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NBN-related disease. Loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000482320 SCV000569358 pathogenic not provided 2017-12-27 criteria provided, single submitter clinical testing This deletion of one nucleotide in NBN is denoted c.123delC at the cDNA level and p.Ser42AlafsX7 (S42AfsX7) at the protein level. The normal sequence, with the base that is deleted in braces, is CGAT[C]AGCC. The deletion causes a frameshift, which changes a Serine to an Alanine at codon 42, and creates a premature stop codon at position 7 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Color RCV000130227 SCV000685705 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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.