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NM_004281.4(BAG3):c.211C>T (p.Arg71Trp) AND Dilated cardiomyopathy 1HH

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 11, 2011
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000023349.11

Allele description [Variation Report for NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)]

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]

Condition(s)

Name:
Dilated cardiomyopathy 1HH (CMD1HH)
Identifiers:
MONDO: MONDO:0013479; MedGen: C3151293; Orphanet: 154; OMIM: 613881

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044640OMIM
no assertion criteria provided
Pathogenic
(Mar 11, 2011) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Züchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE.

Am J Hum Genet. 2011 Mar 11;88(3):273-82. doi: 10.1016/j.ajhg.2011.01.016. Epub 2011 Feb 25.

PubMed [citation]
PMID:
21353195
PMCID:
PMC3059419

Details of each submission

From OMIM, SCV000044640.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a mother and son who were diagnosed with dilated cardiomyopathy (CMD1HH; 613881) at ages 59 years and 41 years, respectively, Norton et al. (2011) identified heterozygosity for a 211C-T transition in exon 2 of the BAG3 gene, resulting in an arg71-to-trp (R71W) substitution. The mutation was not found in 2,644 control chromosomes. The mother underwent heart transplant at age 65 years.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024