ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.1125del (p.Gln375fs)

dbSNP: rs730882017
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 RCV000161058 SCV000211790 pathogenic not provided 2015-03-23 criteria provided, single submitter clinical testing This deletion of one nucleotide in TP53 is denoted c.1125delG at the cDNA level and p.Gln375HisfsX47 (Q375HfsX47) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GTCA[G]TCTA. The deletion causes a frameshift, which changes a Glutamine to a Histidine at codon 375 (the last exon in the TP53 gene), and creates a premature stop codon at position 47 of the new reading frame resulting in the loss of 19 correct amino acids and the gain of 46 incorrect ones. Although this variant has not, to our knowledge, been reported in the literature, it is expected to eliminate the region responsible for repression of DNA-binding (UniProt). we consider this variant to be pathogenic.

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.