ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.832C>G (p.Pro278Ala) (rs17849781)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567850 SCV000665233 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Database of Curated Mutations (DoCM) RCV000437350 SCV000509086 likely pathogenic Multiple myeloma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419216 SCV000509087 likely pathogenic Squamous cell carcinoma of the skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426460 SCV000509088 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437992 SCV000509089 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420739 SCV000509090 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430547 SCV000509091 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441270 SCV000509092 likely pathogenic Neoplasm of the breast 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000417926 SCV000509093 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000427997 SCV000509094 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438674 SCV000509095 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422309 SCV000509096 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433017 SCV000509097 likely pathogenic Ovarian Serous Cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439356 SCV000509098 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785477 SCV000924049 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Invitae RCV000688854 SCV000816480 uncertain significance Li-Fraumeni syndrome 2018-08-23 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 278 of the TP53 protein (p.Pro278Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with breast, ovarian, and/or other cancers (PMID: 21761402, 25428789, 27328919). ClinVar contains an entry for this variant (Variation ID: 376645). Experimental studies have shown that this missense change results in a protein that lacks normal transcriptional activity and does not promote apoptosis or repress proliferation properly (PMID: 24076587, 20407015, 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.

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