ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1002T>G (p.Pro334=) (rs3858339)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249466 SCV000317751 benign Cardiovascular phenotype 2015-03-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000576828 SCV000677137 benign Myofibrillar myopathy, BAG3-related 2017-06-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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.
Illumina Clinical Services Laboratory,Illumina RCV000269109 SCV000360589 benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326542 SCV000360590 benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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.
Laboratory for Molecular Medicine,Partners HealthCare 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).
PreventionGenetics RCV000037883 SCV000310046 benign not specified criteria provided, single submitter clinical testing

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