ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1100+4del (rs1064793280)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481175 SCV000565625 uncertain significance not provided 2015-01-21 criteria provided, single submitter clinical testing This variant is denoted TP53 c.1100+4delA or IVS10+4delA and consists of a deletion of one nucleotide at the +4 position of intron 10. The normal sequence, with the base that is deleted in brackets, is Ggtg[a]gtga, where the capital letters are exonic and lowercase are intronic. Multiple in silico models predict this variant to destroy or weaken the nearby natural donor site, and to possibly cause abnormal gene splicing; however, the impact of this variant on the protein cannot be predicted. TP53 c.1100+4delA was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The nucleotide that is deleted is highly conserved across species. Based on the currently available information, it is unclear whether TP53 c.1100+4delA is pathogenic or benign. We consider it to be a variant of uncertain significance.

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