ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.97-11C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791519 SCV000930772 pathogenic Li-Fraumeni syndrome 2018-10-30 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the TP53 gene. It does not directly change the encoded amino acid sequence of the TP53 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Li-Fraumeni syndrome (PMID: 11420676, 24382691, 28681140), and it has also been reported to segregate with disease in a family (PMID: 17308077, 22851211). This variant is also known as IVS3-11 C>G in the literature. Experimental studies have shown that this variant results in the generation of two aberrant transcripts, one that leads to in-frame skipping of exon 4, and another that leads to the out-of-frame activation of a cryptic acceptor splice site located 10 nucleotides upstream of the natural splice site in intron 3 (PMID: 11420676). For these reasons, this variant has been classified as Pathogenic.

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