ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.787A>G (p.Asn263Asp) (rs72661119)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132389 SCV000187481 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000474969 SCV000545267 uncertain significance Li-Fraumeni syndrome 2018-11-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 263 of the TP53 protein (p.Asn263Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs72661119, ExAC 0.07%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been reported in individuals affected with breast and/or ovarian cancer (PMID: 24929325, 26225655). ClinVar contains an entry for this variant (Variation ID: 142916). An experimental study in yeast has shown that this variant partially impairs the transcriptional transactivation activity of the TP53 protein (PMID: 12826609). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000132389 SCV000686774 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-18 criteria provided, single submitter clinical testing
Counsyl RCV000663318 SCV000786588 likely benign Li-Fraumeni syndrome 1 2018-05-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679373 SCV000806249 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing

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