ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.784_785insAAGCC (p.Gly262fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018376 SCV004848172 likely pathogenic Li-Fraumeni syndrome 2018-06-25 criteria provided, single submitter clinical testing The p.Gly262fs variant in TP53 has not been previously reported in individuals with Li-Fraumeni syndrome or in large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 262 and leads to a premature termination codon 85 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, although additional studies are required to fully establish its clinical significance, the p.Gly262fs variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1, PM2.

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