ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1014C>T (p.Phe338=) (rs150293825)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213067 SCV000211784 benign not specified 2014-07-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000161054 SCV000213005 likely benign Hereditary cancer-predisposing syndrome 2014-07-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001084218 SCV000253304 likely benign Li-Fraumeni syndrome 2020-12-07 criteria provided, single submitter clinical testing
Color Health, Inc RCV000161054 SCV000537467 likely benign Hereditary cancer-predisposing syndrome 2015-10-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590822 SCV000697423 benign not provided 2016-04-25 criteria provided, single submitter clinical testing Variant summary: The c.1014C>T variant affects a non-conserved nucleotide, resulting in no amino acid change. One in-silico tool predicts damaging outcome for this variant. 5/5 splice-tools in Alamut predict that this variant does not affect normal splicing. ESE finder predicts that this variant may affect ESE site of SRp55. However, these predictions are not confirmed by experimental studies. This variant is found in 26/117820 control chromosomes at a frequency of 0.0002207, which is about 6 times of the maximal expected frequency of a pathogenic allele (0.0000354), suggesting this variant is benign. In addition, multiple clinical laboratories classified this variant as benign/likely benign. Taken together, this variant was classified as benign.
PreventionGenetics,PreventionGenetics RCV000590822 SCV000806230 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590822 SCV000889879 benign not provided 2017-10-16 criteria provided, single submitter clinical testing
Mendelics RCV000989699 SCV001140238 likely benign Squamous cell carcinoma of the head and neck 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000590822 SCV001151189 likely benign not provided 2018-07-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001127283 SCV001286578 likely benign Li-Fraumeni syndrome 1 2019-11-18 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000213067 SCV000692059 likely benign not specified no assertion criteria provided clinical testing

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