ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.614A>G (p.Tyr205Cys) (rs1057520007)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000430410 SCV000510113 likely pathogenic Uterine Carcinosarcoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440667 SCV000510114 likely pathogenic Multiple myeloma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422980 SCV000510115 likely pathogenic Renal cell carcinoma, papillary, 1 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433236 SCV000510116 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439980 SCV000510117 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422077 SCV000510118 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432320 SCV000510119 likely pathogenic Neoplasm of the breast 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443687 SCV000510120 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424901 SCV000510121 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431652 SCV000510122 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443828 SCV000510123 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000427749 SCV000510124 likely pathogenic Non-Hodgkin lymphoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437968 SCV000510125 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442863 SCV000510126 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000427034 SCV000510127 likely pathogenic Ovarian Serous Cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437254 SCV000510128 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Invitae RCV000704312 SCV000833256 likely pathogenic Li-Fraumeni syndrome 2018-05-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 205 of the TP53 protein (p.Tyr205Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with Li-Fraumeni syndrome in a family (PMID: 29324801) and has been reported in individuals with a personal and/or family history of Li-Fraumeni syndrome associated tumors (PMID: 21356188, 10922393). ClinVar contains an entry for this variant (Variation ID: 376681). Numerous experimental studies in model organisms have shown that this missense change disrupts the transcriptional transactivation activity of the TP53 protein (PMID: 20505364, 16861262, 17724467, 12826609). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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