NM_004281.4(BAG3):c.1166G>A (p.Ser389Asn) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 5, 2017
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:: RCV000183313.2

Allele description [Variation Report for NM_004281.4(BAG3):c.1166G>A (p.Ser389Asn)]

NM_004281.4(BAG3):c.1166G>A (p.Ser389Asn)

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.1166G>A (p.Ser389Asn)

Other names:

p.S389N:AGT>AAT

HGVS:

NC_000010.11:g.119676720G>A
NG_016125.1:g.30351G>A
NM_004281.4:c.1166G>AMANE SELECT
NP_004272.2:p.Ser389Asn
NP_004272.2:p.Ser389Asn
LRG_742t1:c.1166G>A
LRG_742:g.30351G>A
LRG_742p1:p.Ser389Asn
NC_000010.10:g.121436232G>A
NM_004281.3:c.1166G>A

Protein change:

S389N

Links:

dbSNP: rs140251789

NCBI 1000 Genomes Browser:

rs140251789

Molecular consequence:

NM_004281.4:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000235741	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jan 5, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000235741

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jan 5, 2017)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000235741.11

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

Description

A variant of uncertain significance has been identified in the BAG3 gene. The S389N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project or in the Exome Aggregation Consortium (ExAC) data set. However, the S389N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species and where asparagine is the wild type in multiple species. Finally, in silico analysis predicts this variant likely does not alter the protein structure/function.

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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