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NM_004281.4(BAG3):c.346C>T (p.Gln116Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 6, 2023
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:
RCV003806443.1

Allele description

NM_004281.4(BAG3):c.346C>T (p.Gln116Ter)

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.346C>T (p.Gln116Ter)
HGVS:
  • NC_000010.11:g.119670016C>T
  • NG_016125.1:g.23647C>T
  • NM_004281.4:c.346C>TMANE SELECT
  • NP_004272.2:p.Gln116Ter
  • NP_004272.2:p.Gln116Ter
  • LRG_742t1:c.346C>T
  • LRG_742:g.23647C>T
  • LRG_742p1:p.Gln116Ter
  • NC_000010.10:g.121429528C>T
  • NM_004281.3:c.346C>T
Protein change:
Q116*
Molecular consequence:
  • NM_004281.4:c.346C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Myofibrillar myopathy 6
Synonyms:
Myofibrillar myopathy, BAG3-related
Identifiers:
MONDO: MONDO:0013061; MedGen: C2751831; Orphanet: 199340; OMIM: 612954
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
SCV004591495Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 6, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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

The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.

Franaszczyk M, Bilinska ZT, Sobieszczańska-Małek M, Michalak E, Sleszycka J, Sioma A, Małek ŁA, Kaczmarska D, Walczak E, Włodarski P, Hutnik Ł, Milanowska B, Dzielinska Z, Religa G, Grzybowski J, Zieliński T, Ploski R.

J Transl Med. 2014 Jul 9;12:192. doi: 10.1186/1479-5876-12-192.

PubMed [citation]
PMID:
25008357
PMCID:
PMC4105391
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004591495.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BAG3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln116*) in the BAG3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BAG3 are known to be pathogenic (PMID: 21353195, 25008357).

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

Last Updated: Mar 5, 2024