ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1002T>G (p.Pro334=)

gnomAD frequency: 0.12375  dbSNP: rs3858339
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037883 SCV000061545 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Pro334Pro in Exon 04 of BAG3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and has been identified in 17.0% (637/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs3858339).
Eurofins Ntd Llc (ga) RCV000037883 SCV000112803 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000037883 SCV000167158 benign not specified 2014-01-20 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.
Preventiongenetics, part of Exact Sciences RCV000037883 SCV000310046 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000249466 SCV000317751 benign Cardiovascular phenotype 2015-03-11 criteria provided, single submitter clinical testing This alteration is classified as 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.
Illumina Laboratory Services, Illumina RCV000269109 SCV000360589 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000576828 SCV000360590 benign Myofibrillar myopathy 6 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000576828 SCV000677137 benign Myofibrillar myopathy 6 2017-06-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590170 SCV000698273 benign not provided 2017-08-03 criteria provided, single submitter clinical testing Variant summary: The BAG3 c.1002T>G (p.Pro334Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect biding of multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 13883/121360 control chromosomes (1030 homozygotes) from ExAC at a frequency of 0.1143952, which is approximately 2928 times the estimated maximal expected allele frequency of a pathogenic BAG3 variant (0.0000391), thus it is a common benign polymorphism. In addition, multiple clinical diagnostic laboratories have classified this variant as benign. In literature, this variant has been reported in one patient with dilated cardiomyopathy who also carried a rare variant p.I206V and known polymorphisms c.910-21A>C and p.P407L (Ruppert_2013). Taken together, this variant is classified as benign.
Invitae RCV001514277 SCV001722078 benign Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-02-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037883 SCV001917506 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037883 SCV001954222 benign not specified no assertion criteria provided clinical testing

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.