NM_004281.4(BAG3):c.212G>T (p.Arg71Leu) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 21, 2021
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:: RCV002420602.9

Allele description [Variation Report for NM_004281.4(BAG3):c.212G>T (p.Arg71Leu)]

NM_004281.4(BAG3):c.212G>T (p.Arg71Leu)

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.212G>T (p.Arg71Leu)

HGVS:

NC_000010.11:g.119669882G>T
NG_016125.1:g.23513G>T
NM_004281.4:c.212G>TMANE SELECT
NP_004272.2:p.Arg71Leu
NP_004272.2:p.Arg71Leu
LRG_742t1:c.212G>T
LRG_742:g.23513G>T
LRG_742p1:p.Arg71Leu
NC_000010.10:g.121429394G>T
NM_004281.3:c.212G>T

Protein change:

R71L

Links:

dbSNP: rs35434411

NCBI 1000 Genomes Browser:

rs35434411

Molecular consequence:

NM_004281.4:c.212G>T - 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
SCV002729984	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 21, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 26272908, 30012837, 30847666 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002729984

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 21, 2021)

germline

clinical testing

PubMed (3)
[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

Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood.

Santori M, Blanco-Verea A, Gil R, Cortis J, Becker K, Schneider PM, Carracedo A, Brion M.

Arch Dis Child. 2015 Oct;100(10):952-6. doi: 10.1136/archdischild-2015-308200. Epub 2015 Aug 13.

PubMed [citation]

PMID:: 26272908

Multigenic Disease and Bilineal Inheritance in Dilated Cardiomyopathy Is Illustrated in Nonsegregating LMNA Pedigrees.

Cowan JR, Kinnamon DD, Morales A, Salyer L, Nickerson DA, Hershberger RE.

Circ Genom Precis Med. 2018 Jul;11(7):e002038. doi: 10.1161/CIRCGEN.117.002038.

PubMed [citation]

PMID:: 30012837
PMCID:: PMC6294440

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002729984.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The p.R71L variant (also known as c.212G>T), located in coding exon 2 of the BAG3 gene, results from a G to T substitution at nucleotide position 212. The arginine at codon 71 is replaced by leucine, an amino acid with dissimilar properties. This variant was detected in a cardiomyopathy genetic testing cohort and a sudden unexplained death cohort; however, clinical details were limited, and additional cardiac variants were detected in both cases (Santori M et al. Arch. Dis. Child., 2015 Oct;100:952-6; van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). 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. Since supporting evidence is limited at this time, the clinical significance of this alteration 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: Nov 3, 2024

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