ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.247_256del (p.Ala83fs) (rs1555526635)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657303 SCV000779034 likely pathogenic not provided 2017-03-16 criteria provided, single submitter clinical testing This deletion of 10 nucleotides in TP53 is denoted c.247_256del10 at the cDNA level and p.Ala83HisfsX37 (A83HfsX37) at the protein level. The surrounding sequence is ACCG[del10]CACC. The deletion causes a frameshift which changes an Alanine to a Histidine at codon 83, and creates a premature stop codon at position 37 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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