ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.613T>G (p.Tyr205Asp) (rs1057520008)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000663307 SCV000786563 uncertain significance Li-Fraumeni syndrome 1 2018-05-23 criteria provided, single submitter clinical testing
Database of Curated Mutations (DoCM) RCV000430021 SCV000510193 likely pathogenic Ovarian Serous Cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439865 SCV000510194 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419128 SCV000510195 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428939 SCV000510196 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439629 SCV000510197 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421350 SCV000510198 likely pathogenic Multiple myeloma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428535 SCV000510199 likely pathogenic Neoplasm of the breast 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438356 SCV000510200 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421137 SCV000510201 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434446 SCV000510202 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444873 SCV000510203 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423676 SCV000510204 likely pathogenic Non-Hodgkin lymphoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434351 SCV000510205 likely pathogenic Uterine Carcinosarcoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444122 SCV000510206 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426948 SCV000510207 likely pathogenic Renal cell carcinoma, papillary, 1 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436740 SCV000510208 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Invitae RCV000462351 SCV000545314 uncertain significance Li-Fraumeni syndrome 2016-07-05 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with aspartic acid at codon 205 of the TP53 protein (p.Tyr205Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid. 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 a TP53-related disease, but has been reported as a somatic variant in multiple tumor samples (PMID: 24009708, 17062677, 19064568, 23474753, 24091621). Experimental studies have shown that this variant disrupts TP53 transactivation activity in yeast-based assays (PMID: 12826609). In summary, this variant is a rare missense change that disrupts protein function in vitro. However, the evidence is insufficient at this time to prove its clinical significance conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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