ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter)

dbSNP: rs1388478228
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064133 SCV001229013 pathogenic Acute myeloid leukemia 2023-07-14 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Glu148*) in the CEBPA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 211 amino acid(s) of the CEBPA protein. This premature translational stop signal has been observed in individual(s) with acute myeloid leukemia (PMID: 29296967). ClinVar contains an entry for this variant (Variation ID: 858287). This variant disrupts a region of the CEBPA protein in which other variant(s) (p.Gln311Pro) have been determined to be pathogenic (PMID: 26721895). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV001064133 SCV002026484 not provided Acute myeloid leukemia no assertion provided literature only

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.