ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) (rs139539448)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725982 SCV000340997 uncertain significance not provided 2016-04-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000405416 SCV000605432 uncertain significance not specified 2019-01-03 criteria provided, single submitter clinical testing The TRIP11 c.2102A>G; p.Asn701Ser variant (rs139539448), to our knowledge, is not described in the medical literature but contains an entry in ClinVar (Variation ID: 5511). It is observed in the general population at an overall frequency of 0.17% (484/282038 alleles) in the Genome Aggregation Database. The asparagine at position 701 is weakly conserved, and computational analyses (PolyPhen-2, SIFT) predict that this variant is tolerated. However, due to limited clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.
Invitae RCV000005846 SCV001101898 likely benign Achondrogenesis, type IA 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000005846 SCV001275251 likely benign Achondrogenesis, type IA 2017-04-27 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.
OMIM RCV000005846 SCV000026028 pathogenic Achondrogenesis, type IA 2010-01-21 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.