NM_004281.4(BAG3):c.211C>T (p.Arg71Trp) AND Primary dilated cardiomyopathy

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (2 submissions)
Last evaluated:: May 14, 2019
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:: RCV000852638.11

Allele description

NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)

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.211C>T (p.Arg71Trp)

HGVS:

NC_000010.11:g.119669881C>T
NG_016125.1:g.23512C>T
NM_004281.4:c.211C>TMANE SELECT
NP_004272.2:p.Arg71Trp
NP_004272.2:p.Arg71Trp
LRG_742t1:c.211C>T
LRG_742:g.23512C>T
LRG_742p1:p.Arg71Trp
NC_000010.10:g.121429393C>T
NM_004281.3:c.211C>T
O95817:p.Arg71Trp

Protein change:

R71W; ARG71TRP

Links:

UniProtKB: O95817#VAR_065479; OMIM: 603883.0003; dbSNP: rs387906874

NCBI 1000 Genomes Browser:

rs387906874

Molecular consequence:

NM_004281.4:c.211C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Primary dilated cardiomyopathy (DCM)
Synonyms:: Dilated Cardiomyopathy
Identifiers:: EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

Recent activity

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PREDICTED: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 [Bison bison ...
PREDICTED: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 [Bison bison bison]
gi|742117809|ref|XP_010838132.1|

Protein
elongation of very long chain fatty acids protein 7 [Macaca nemestrina]
elongation of very long chain fatty acids protein 7 [Macaca nemestrina]
gi|1381468584|ref|XP_024642721.1|

Protein
RecName: Full=Serine/threonine-protein kinase PRR2; AltName: Full=Pheromone resp...
RecName: Full=Serine/threonine-protein kinase PRR2; AltName: Full=Pheromone response regulator 2
gi|74655042|sp|Q12310.1|PRR2_YEAST

Protein
septum site-determining protein MinC [Francisella tularensis]
septum site-determining protein MinC [Francisella tularensis]
gi|489104957|ref|WP_003014818.1|

Protein
arginine and glutamate-rich protein 1-A-like isoform X2 [Aethina tumida]
arginine and glutamate-rich protein 1-A-like isoform X2 [Aethina tumida]
gi|2284719757|ref|XP_049825023.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000995343	Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (May 14, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001434726	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Uncertain significance	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000995343

Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(May 14, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001434726

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Uncertain significance

inherited

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

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

Details of each submission

From Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego, SCV000995343.1

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

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

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001434726.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

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

Last Updated: Oct 26, 2024

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