NM_004281.4(BAG3):c.368G>A (p.Arg123Gln) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 8, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002345584.3

Allele description [Variation Report for NM_004281.4(BAG3):c.368G>A (p.Arg123Gln)]

NM_004281.4(BAG3):c.368G>A (p.Arg123Gln)

Gene:

BAG3:BAG cochaperone 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.11

Genomic location:

Preferred name:

NM_004281.4(BAG3):c.368G>A (p.Arg123Gln)

HGVS:

NC_000010.11:g.119670038G>A
NG_016125.1:g.23669G>A
NM_004281.4:c.368G>AMANE SELECT
NP_004272.2:p.Arg123Gln
NP_004272.2:p.Arg123Gln
LRG_742t1:c.368G>A
LRG_742:g.23669G>A
LRG_742p1:p.Arg123Gln
NC_000010.10:g.121429550G>A
NM_004281.3:c.368G>A

Protein change:

R123Q

Links:

dbSNP: rs199991063

NCBI 1000 Genomes Browser:

rs199991063

Molecular consequence:

NM_004281.4:c.368G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002622097	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 8, 2024)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23861362, 28359509 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002622097

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 8, 2024)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]

PMID:: 23861362
PMCID:: PMC3887521

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.

Belkaya S, Kontorovich AR, Byun M, Mulero-Navarro S, Bajolle F, Cobat A, Josowitz R, Itan Y, Quint R, Lorenzo L, Boucherit S, Stoven C, Di Filippo S, Abel L, Zhang SY, Bonnet D, Gelb BD, Casanova JL.

J Am Coll Cardiol. 2017 Apr 4;69(13):1653-1665. doi: 10.1016/j.jacc.2017.01.043.

PubMed [citation]

PMID:: 28359509
PMCID:: PMC5551973

Details of each submission

From Ambry Genetics, SCV002622097.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The p.R123Q variant (also known as c.368G>A), located in coding exon 2 of the BAG3 gene, results from a G to A substitution at nucleotide position 368. The arginine at codon 123 is replaced by glutamine, an amino acid with highly similar properties. This variant was identified in an individual with acute myocarditis and a second BAG3 variant confirmed in trans (Belkaya S et al. J. Am. Coll. Cardiol., 2017 Apr;69:1653-1665). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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