NM_004281.4(BAG3):c.1306G>T (p.Glu436Ter) AND Cardiovascular phenotype

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 7, 2018
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:: RCV002380971.2

Allele description [Variation Report for NM_004281.4(BAG3):c.1306G>T (p.Glu436Ter)]

NM_004281.4(BAG3):c.1306G>T (p.Glu436Ter)

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.1306G>T (p.Glu436Ter)

HGVS:

NC_000010.11:g.119676860G>T
NG_016125.1:g.30491G>T
NM_004281.4:c.1306G>TMANE SELECT
NP_004272.2:p.Glu436Ter
NP_004272.2:p.Glu436Ter
LRG_742t1:c.1306G>T
LRG_742:g.30491G>T
LRG_742p1:p.Glu436Ter
NC_000010.10:g.121436372G>T
NM_004281.3:c.1306G>T

Protein change:

E436*

Molecular consequence:

NM_004281.4:c.1306G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002691348	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely pathogenic (Jun 7, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002691348

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely pathogenic
(Jun 7, 2018)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV002691348.2

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

Description

The p.E436* variant (also known as c.1306G>T), located in coding exon 4 of the BAG3 gene, results from a G to T substitution at nucleotide position 1306. This changes the amino acid from a glutamic acid to a stop codon within coding exon 4. Premature stop codons are typically deleterious in nature, however, this stop codon occurs at the 3' terminus of BAG3, is not expected to trigger nonsense-mediated mRNA decay, and removes the last 140 amino acids of the protein, including the majority of the BAG domain. Thus, this variant is likely to be pathogenic.

#	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: May 1, 2024

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