ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.327_328del (p.Phe109fs) (rs1064795434)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479264 SCV000571235 likely pathogenic not provided 2016-08-04 criteria provided, single submitter clinical testing This deletion of two nucleotides in TP53 is denoted c.327_328delCC at the cDNA level and p.Phe109LeufsX39 (F109LfsX39) at the protein level. The normal sequence, with the bases that are deleted in braces, is GTTT[CC]GTCT. The deletion causes a frameshift which changes a Phenylalanine to a Leucine at codon 109, and creates a premature stop codon at position 39 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.

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