ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.706T>A (p.Tyr236Asn) (rs587782289)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566931 SCV000672389 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Intact protein function observed in appropriate functional assay(s),Other strong data supporting pathogenic classification,Other data supporting pathogenic classification
Database of Curated Mutations (DoCM) RCV000439518 SCV000510366 likely pathogenic Neoplasm of the breast 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422301 SCV000510367 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432981 SCV000510368 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444573 SCV000510369 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421176 SCV000510370 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431852 SCV000510371 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444665 SCV000510372 likely pathogenic Squamous cell carcinoma of the skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000427088 SCV000510373 likely pathogenic Ovarian Serous Cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438025 SCV000510374 likely pathogenic Adenocarcinoma of prostate 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443891 SCV000510375 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426248 SCV000510376 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Invitae RCV000463978 SCV000545294 uncertain significance Li-Fraumeni syndrome 2016-05-03 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with asparagine at codon 236 of the TP53 protein (p.Tyr236Asn). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and asparagine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TP53-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. However, experiments in yeast indicate that this variant does not significantly alter TP53 transactivation activity in vitro (PMID: 12826609, 15580553). In summary, this variant is a novel missense change with uncertain impact on protein function. In the absence of further supportive evidence, it has been classified as a Variant of Uncertain Significance.

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