ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.776A>G (p.Asp259Gly) (rs745425759)

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
Color RCV000774788 SCV000908787 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000168379 SCV000219070 uncertain significance Li-Fraumeni syndrome 2018-01-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 259 of the TP53 protein (p.Asp259Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with chronic lymphocytic leukemia (PMID: 21232794). ClinVar contains an entry for this variant (Variation ID: 188349). An experimental study in yeast has shown that this variant partially impairs the transcriptional transactivation activity of the TP53 protein (PMID: 12826609). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.