ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.848del (p.Pro283fs)

dbSNP: rs2129827996
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001993209 SCV002236448 pathogenic Microcephaly, normal intelligence and immunodeficiency 2022-05-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1451317). This variant has not been reported in the literature in individuals affected with NBN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro283Leufs*11) in the NBN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040).
Myriad Genetics, Inc. RCV001993209 SCV002602540 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2022-01-15 criteria provided, single submitter clinical testing NM_002485.4(NBN):c.848delC(P283Lfs*11) is expected to be pathogenic in the context of Nijmegen breakage syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in NBN, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Ambry Genetics RCV003348687 SCV004051378 pathogenic Hereditary cancer-predisposing syndrome 2023-06-22 criteria provided, single submitter clinical testing The c.848delC pathogenic mutation, located in coding exon 7 of the NBN gene, results from a deletion of one nucleotide at nucleotide position 848, causing a translational frameshift with a predicted alternate stop codon (p.P283Lfs*11). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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.