ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.920-2A>G (rs397516439)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132190 SCV000187270 likely pathogenic Hereditary cancer-predisposing syndrome 2017-05-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
GeneDx RCV000483617 SCV000571425 pathogenic not provided 2018-08-24 criteria provided, single submitter clinical testing This variant is denoted TP53 c.920-2A>G or IVS8-2A>G and consists of an A>G nucleotide substitution at the -2 position of intron 8 of the TP53 gene. This variant destroys a canonical splice site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. Although this variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant, other variants impacting the same splice site have been reported in association with Li-Fraumeni syndrome (Gonzalez 2009, Wu 2011). Based on the current available evidence, we consider TP53 c.920-2A>G to be pathogenic.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036537 SCV000060192 likely pathogenic Li-Fraumeni syndrome 2008-08-01 no assertion criteria provided clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785489 SCV000924061 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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