ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.468_470GGC[4] (p.Ala160dup) (rs139438727)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000587453 SCV000841020 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037895 SCV000227329 benign not specified 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000037895 SCV000235737 benign not specified 2014-05-01 criteria provided, single submitter clinical testing The variant is found in CARDIOMYOPATHY panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000261469 SCV000360566 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318585 SCV000360567 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587453 SCV000698280 benign not provided 2017-08-16 criteria provided, single submitter clinical testing Variant summary: The BAG3 c.474_476dupGGC (p.Ala158dup) variant (alternatively also known as c.465_466insGCG) leads to in-frame insertion of one alanine residue in a stretch of six alanine residues in exon 2. Mutation taster predicts a benign outcome for this variant. This variant was found in 241/115882 control chromosomes (3 homozygotes) from ExAC, predominantly observed in the African subpopulation at a frequency of 0.025248 (234/9268). This frequency is about 646 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/reputable databases in ClinVar have classified this variant as benign. To our knowledge, this variant t has not been reported in affected individuals via publications, nor has it been evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000229509 SCV000288305 benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2018-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037895 SCV000061557 benign not specified 2012-11-19 criteria provided, single submitter clinical testing Ala160_Gln161insAla in exon 2 of BAG3: This variant adds fourth copy to a string of 3 consecutive GGC repeats, which results in the insertion of an alanine (Ala ) residue in a string of 6 alanines. This variant is not expected to have clinic al significance because it has been identified in 2.8% (117/4168) of African Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs139438727).

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