ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.451C>T (p.Pro151Ser) (rs28934874)

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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219702 SCV000272964 likely pathogenic Hereditary cancer-predisposing syndrome 2018-05-07 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,Deficient protein function in appropriate functional assay(s),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Database of Curated Mutations (DoCM) RCV000440140 SCV000508949 likely pathogenic Neoplasm of the breast 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422996 SCV000508950 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433689 SCV000508951 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440887 SCV000508952 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421928 SCV000508953 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432585 SCV000508954 likely pathogenic Adenoid cystic carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443020 SCV000508955 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426058 SCV000508956 likely pathogenic Multiple myeloma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431507 SCV000508957 likely pathogenic Uterine Carcinosarcoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443379 SCV000508958 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424996 SCV000508959 likely pathogenic Ovarian Serous Cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435681 SCV000508960 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420199 SCV000508961 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000427411 SCV000508962 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438074 SCV000508963 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420869 SCV000508964 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429847 SCV000508965 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079203 SCV000111072 pathogenic not provided 2012-12-28 criteria provided, single submitter clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785532 SCV000924104 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Invitae RCV000633355 SCV000754577 pathogenic Li-Fraumeni syndrome 2018-06-05 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 151 of the TP53 protein (p.Pro151Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Li-Fraumeni syndrome (PMID: 7881428, 17606709, 25584008, 20522432), and at least one of them has been confirmed to be de novo (PMID: 7881428). ClinVar contains an entry for this variant (Variation ID: 12370). This variant is located within the DNA-binding domain of the TP53 protein (PMID: 12826609). Experimental studies have shown that this missense change disrupts the transcriptional activity of TP53 protein and reduces its function as a tumor suppressor (PMID: 20128691, 12826609, 21343334, 16861262, 10713666, 23625637). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000633355 SCV000839120 pathogenic Li-Fraumeni syndrome 2018-07-02 criteria provided, single submitter clinical testing
OMIM RCV000013169 SCV000033416 pathogenic Breast adenocarcinoma 1991-05-01 no assertion criteria provided literature only

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