NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 19, 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:: RCV000622150.3

Allele description [Variation Report for NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)]

NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)

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.280A>T (p.Ile94Phe)

Other names:

p.I94F:ATT>TTT

HGVS:

NC_000010.11:g.119669950A>T
NG_016125.1:g.23581A>T
NM_004281.4:c.280A>TMANE SELECT
NP_004272.2:p.Ile94Phe
NP_004272.2:p.Ile94Phe
LRG_742t1:c.280A>T
LRG_742:g.23581A>T
LRG_742p1:p.Ile94Phe
NC_000010.10:g.121429462A>T
NM_004281.3:c.280A>T
O95817:p.Ile94Phe

Protein change:

I94F

Links:

UniProtKB: O95817#VAR_066778; dbSNP: rs145393807

NCBI 1000 Genomes Browser:

rs145393807

Molecular consequence:

NM_004281.4:c.280A>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000735531	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Mar 19, 2019)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 21353195, 21459883, 23861362, 27042682, 27896284, 28798025 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000735531

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Mar 19, 2019)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

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

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

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.

Villard E, Perret C, Gary F, Proust C, Dilanian G, Hengstenberg C, Ruppert V, Arbustini E, Wichter T, Germain M, Dubourg O, Tavazzi L, Aumont MC, DeGroote P, Fauchier L, Trochu JN, Gibelin P, Aupetit JF, Stark K, Erdmann J, Hetzer R, Roberts AM, et al.

Eur Heart J. 2011 May;32(9):1065-76. doi: 10.1093/eurheartj/ehr105. Epub 2011 Apr 1.

PubMed [citation]

PMID:: 21459883
PMCID:: PMC3086901

See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV000735531.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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: Oct 20, 2024

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