ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.836G>A (p.Gly279Glu) (rs1064793881)

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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 RCV000492354 SCV000581126 likely pathogenic Hereditary cancer-predisposing syndrome 2014-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Deficient protein function in appropriate functional assay(s),Other strong data supporting pathogenic classification,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes)
GeneDx RCV000484876 SCV000567266 pathogenic not provided 2015-07-16 criteria provided, single submitter clinical testing Multiple functional assays have shown G279E to greatly reduce or abolish the transactivation activity of p53(Menendez et al., 2006, Inga et al. 2001, Tsutsumi-Ishii et al., 1995, Campomenosi 2001). The G279Esubstitution was not observed in approximately 6,500 individuals of European and African American ancestry inthe NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. SinceGlycine and Glutamic Acid differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. The G279E variant occurs at a position that is conserved, located inthe DNA binding domain, and in regions of interaction with HIPK1, AXIN1, E4F1 and ZNF385A. In silicoanalyses predict that this variant is probably damaging to protein structure and function. Therefore, G279Eis interpreted as a pathogenic variant.
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785274 SCV000923842 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000584418 SCV000692066 uncertain significance not specified no assertion criteria provided clinical testing

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