ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.833C>G (p.Pro278Arg) (rs876659802)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572417 SCV000672393 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Database of Curated Mutations (DoCM) RCV000424036 SCV000509073 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431305 SCV000509074 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441126 SCV000509075 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423863 SCV000509076 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431945 SCV000509077 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443990 SCV000509078 likely pathogenic Neoplasm of the breast 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420956 SCV000509079 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431661 SCV000509080 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444083 SCV000509081 likely pathogenic Multiple myeloma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425930 SCV000509082 likely pathogenic Ovarian Serous Cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432244 SCV000509083 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443337 SCV000509084 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426582 SCV000509085 likely pathogenic Squamous cell carcinoma of the skin 2016-05-31 no assertion criteria provided literature only
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785498 SCV000924070 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Gharavi Laboratory,Columbia University RCV000681956 SCV000809448 likely pathogenic not provided 2018-09-16 no assertion criteria provided research
Invitae RCV000797363 SCV000936917 uncertain significance Li-Fraumeni syndrome 2018-11-05 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 278 of the TP53 protein (p.Pro278Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in the germline of individuals with TP53-related disease.  ClinVar contains an entry for this variant (Variation ID: 376644). Experimental studies have shown that this variant impairs the transcriptional transactivation activity of the TP53 protein (PMID: 12826609, 20195489, 26619011) 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.

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