ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.606G>T (p.Pro202=) (rs74157690)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000037896 SCV000167157 benign not specified 2014-04-28 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 RCV000312286 SCV000360578 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350664 SCV000360579 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589469 SCV000698281 benign not provided 2017-08-02 criteria provided, single submitter clinical testing Variant summary: The BAG3 c.606G>T (p.Pro202Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant creates a new site for SRp40. However, these predictions have yet to be confirmed by functional studies. This variant was found in 152/119150 control chromosomes from ExAC, predominantly observed in the African subpopulation at a frequency of 0.014559 (143/9822). This frequency is about 373 times the estimated maximal expected allele frequency of a pathogenic BAG3 variant (0.0000391), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories in ClinVar have classified this variant as benign/likely benign. To our knowledge, this variant has not been reported in affected individuals via publications. Taken together, this variant is classified as benign.
Invitae RCV000232367 SCV000288306 benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2018-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037896 SCV000061558 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Pro202Pro in Exon 03 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 1.3% (48/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs74157690).

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