ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.814G>A (p.Val272Met) (rs121912657)

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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 RCV000165304 SCV000216025 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Database of Curated Mutations (DoCM) RCV000434295 SCV000509950 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441086 SCV000509951 likely pathogenic Multiple myeloma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424351 SCV000509952 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434621 SCV000509953 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443071 SCV000509954 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424542 SCV000509955 likely pathogenic Ovarian Serous Cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432177 SCV000509956 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443052 SCV000509957 likely pathogenic Neoplasm of the breast 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425268 SCV000509958 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436402 SCV000509959 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418746 SCV000509960 likely pathogenic Renal cell carcinoma, papillary, 1 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426406 SCV000509961 likely pathogenic Squamous cell carcinoma of the skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436602 SCV000509962 likely pathogenic Medulloblastoma 2016-05-31 no assertion criteria provided literature only
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785341 SCV000923909 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Invitae RCV000457645 SCV000545259 uncertain significance Li-Fraumeni syndrome 2018-10-01 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 272 of the TP53 protein (p.Val272Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs121912657, ExAC 0.01%). This variant has been reported in individuals affected with cancer types associated with Li-Fraumeni syndrome (PMID: 18511570, 23175693, 25584008). ClinVar contains an entry for this variant (Variation ID: 185814). Experimental studies have shown that this missense change disrupts the transcriptional transactivation function of the TP53 protein in a temperature sensitive manner (PMID: 9290701, 9635828, 12826609, 16861262, 22710932). 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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