ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.-4C>T (rs727502894)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150171 SCV000197079 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing The -4C>T variant in BAG3 has not been previously reported in individuals with c ardiomyopathy. Data from large population studies is insufficient to assess the frequency of this variant. This variant is located in the 5' UTR and is part of the translation initiation (Kozak) sequence but its effect on translation is unk nown. In summary, the clinical significance of the -4C>T variant is uncertain.
GeneDx RCV000766350 SCV000589950 uncertain significance not provided 2017-03-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the BAG3 gene. The c.-4 C>T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 10/52874 (0.02%) alleles from individuals of European background in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; Exome Variant Server). The c.-4 C>T variant alters a position in the Kozak sequence, but is not expected to alter the ATG initiation codon. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Finally, this nucleotide substitution occurs at a position that is not conserved across species.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000766350 SCV001148103 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001104466 SCV001261333 likely benign Myofibrillar myopathy, BAG3-related 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001104467 SCV001261334 uncertain significance Dilated cardiomyopathy 1HH 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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.