ClinVar Miner

Submissions for variant NC_000017.11:g.(?_7669599)_(7669700_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031842 SCV001195149 likely pathogenic Li-Fraumeni syndrome 2019-05-15 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 11 of the TP53 gene. The 5' boundary is likely confined to intron 10. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TP53 protein. A deletion of exon 11 has been reported in the literature in an individual affected with breast cancer (PMID: 26681312). This deletion removes a portion of TP53 that is necessary for full TP53 DNA binding and transactivation activity (PMID: 22178617, 25794615, 26205489). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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