ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.528C>G (p.Cys176Trp) (rs1057519980)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530055 SCV000629832 uncertain significance Li-Fraumeni syndrome 2017-02-27 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tryptophan at codon 176 of the TP53 protein (p.Cys176Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in the germline of individuals with a TP53-related disease. Experimental studies have shown that this missense change disrupts TP53 transactivation activity (PMID: 12826609, 19850740). In summary, this is a novel missense variant that has been shown to affect protein function. However, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000567103 SCV000664440 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-17 criteria provided, single submitter clinical testing Insufficient evidence
Database of Curated Mutations (DoCM) RCV000429475 SCV000507654 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439276 SCV000507655 likely pathogenic Ovarian Serous Cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418563 SCV000507656 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430137 SCV000507657 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440822 SCV000507658 likely pathogenic Neoplasm of the breast 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422732 SCV000507659 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429952 SCV000507660 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441518 SCV000507661 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424249 SCV000507662 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434070 SCV000507663 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442369 SCV000507664 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421434 SCV000507665 likely pathogenic Adenocarcinoma of prostate 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432087 SCV000507666 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000445065 SCV000507667 likely pathogenic Acute myeloid leukemia 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424653 SCV000507668 likely pathogenic Renal cell carcinoma, papillary, 1 2016-05-31 no assertion criteria provided literature only
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785243 SCV000923811 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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