ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3006_3009dup (p.Tyr1004fs)

dbSNP: rs1057518520
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413196 SCV000492250 likely pathogenic not provided 2016-12-09 criteria provided, single submitter clinical testing A novel c.3006_3009dupGCTC variant that is likely pathogenic has been identified in the GRIN2B gene. The c.3006_3009dupGCTC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.3006_3009dupGCTC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.3006_3009dupGCTC variant in the GRIN2B gene causes a frameshift starting with codon Tyrosine 1004, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Tyr1004AlafsX5. This variant is predicted to cause protein truncation as the last 481 amino acids of the GRIN2B protein are changed to 4 incorrect amino acids. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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.