ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.783-16_783-15del (rs1064793810)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483618 SCV000567097 uncertain significance not provided 2015-06-30 criteria provided, single submitter clinical testing This variant is denoted TP53 IVS7-16_IVS7-15delTT or c.783-16_783-15delTT and consists of a deletion of two nucleotides at the -16 to -15 position of intron 7 of the TP53 gene. The normal sequence with the bases that are deleted in braces is tctt[tt]ccta. Multiple in silico models predict this variant to weaken the nearby natural splice acceptor site, and to possibly cause abnormal gene splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The thymine (T) nucleotide that is deleted is not conserved across species. Based on currently available information, it is unclear whether TP53 c.783-16_783-15delTT is pathogenic or benign. We consider it to be a variant of uncertain significance.

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