ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.97-11C>G

dbSNP: rs769697802
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791519 SCV000930772 pathogenic Li-Fraumeni syndrome 2021-03-10 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with Li-Fraumeni syndrome (PMID: 11420676, 24382691, 28681140). It has also been observed to segregate with disease in related individuals. This variant is also known as IVS3-11 C>G in the literature. ClinVar contains an entry for this variant (Variation ID: 638852). For these reasons, this variant has been classified as Pathogenic. 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). This variant is not present in population databases (ExAC no frequency). 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.
Baylor Genetics RCV003472330 SCV004204276 pathogenic Adrenocortical carcinoma, hereditary 2022-08-19 criteria provided, single submitter clinical testing

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