ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.257_279del (p.Ala86fs) (rs886041861)

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
GeneDx RCV000365382 SCV000330641 pathogenic not provided 2016-07-11 criteria provided, single submitter clinical testing The c.257_279del23 variant in the TP53 gene has been previously reported as a somatic variant in malignant melanoma and prostate neoplasms, but has not been reported in the germline (Robinson et al., 2015; Shain et al., 2015). The deletion causes a frameshift starting with codon Alanine 86, changes this amino acid to a Valine residue and creates a premature Stop codon at position 55 of the new reading frame, denoted p.Ala86ValfsX55. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on the currently available evidence, we consider c.257_279del23 to be pathogenic.
Mendelics RCV000709410 SCV000839125 pathogenic Li-Fraumeni syndrome 2018-07-02 criteria provided, single submitter clinical testing

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.