ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.90C>T (p.Asn30=) (rs370992294)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000756801 SCV000253317 likely benign not provided 2019-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000214400 SCV000277010 likely benign Hereditary cancer-predisposing syndrome 2016-07-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000437666 SCV000514932 likely benign not specified 2016-04-07 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.
Color RCV000214400 SCV000686781 likely benign Hereditary cancer-predisposing syndrome 2017-03-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756801 SCV000884716 likely benign not provided 2017-07-21 criteria provided, single submitter clinical testing The TP53 c.90C>T; p.Asn30Asn variant (rs370992294) is reported multiple times in ClinVar as a likely benign variant (Variation ID: 215764), and observed in general population databases at frequencies of 0.008 percent (1/13004 alleles, Exome Variant Server), and 0.001 percent (3/275498 alleles, Genome Aggregation Database). This is a synonymous change, the nucleotide is not well conserved, and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) do not predict this variant to impact splicing. Taken together, this variant is considered likely benign. References: Link to ClinVar database for p.Asn30Asn: https://www.ncbi.nlm.nih.gov/clinvar/variation/215764/

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