ClinVar Miner

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

gnomAD frequency: 0.00217  dbSNP: rs139539448
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725982 SCV000340997 uncertain significance not provided 2016-04-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000725982 SCV000605432 uncertain significance not provided 2023-10-18 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 predict that this variant is neutral (REVEL: 0.037). 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 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276533 SCV002567053 uncertain significance Connective tissue disorder 2018-11-07 criteria provided, single submitter clinical testing

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