ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.455dup (p.Pro153fs) (rs730882019)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000161060 SCV000675338 pathogenic Hereditary cancer-predisposing syndrome 2016-05-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000766936 SCV000211792 pathogenic not provided 2014-08-25 criteria provided, single submitter clinical testing This duplication of one nucleotide in TP53 is denoted c.455dupC at the cDNA level and p.Pro153AlafsX28 (P153AfsX28) at the protein level. The normal sequence, with the bases that are duplicated in brackets, is ACCCC[dupC]GCCC. The duplication causes a frameshift, which changes a Proline to an Alanine at codon 153, and creates a premature stop codon at position 28 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. TP53 c.455dupC has been observed in at least one Li-Fraumeni family (Toguchida 1992). we consider this variant to be pathogenic.
OMIM RCV000013155 SCV000033402 pathogenic Li-Fraumeni syndrome 1 1992-05-14 no assertion criteria provided literature only

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