NM_004281.4(BAG3):c.855G>A (p.Thr285=) AND not provided

Germline classification:: Likely benign (4 submissions)
Last evaluated:: Mar 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001528834.32

Allele description [Variation Report for NM_004281.4(BAG3):c.855G>A (p.Thr285=)]

NM_004281.4(BAG3):c.855G>A (p.Thr285=)

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.855G>A (p.Thr285=)

Other names:

p.T285T:ACG>ACA

HGVS:

NC_000010.11:g.119672602G>A
NG_016125.1:g.26233G>A
NM_004281.4:c.855G>AMANE SELECT
NP_004272.2:p.Thr285=
NP_004272.2:p.Thr285=
LRG_742t1:c.855G>A
LRG_742:g.26233G>A
LRG_742p1:p.Thr285=
NC_000010.10:g.121432114G>A
NM_004281.3:c.855G>A

Links:

dbSNP: rs147259596

NCBI 1000 Genomes Browser:

rs147259596

Molecular consequence:

NM_004281.4:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Chain A, Zinc finger protein 347
Chain A, Zinc finger protein 347
gi|159164850|pdb|2YU8|A

Protein
Bacillus subtilis strain At3 chromosome, complete genome
Bacillus subtilis strain At3 chromosome, complete genome
gi|1833792376|gb|CP051462.1|

Nucleotide
Conserved Domain Links for Structure (Select 58818) (1)
Conserved Domains
(Megalobrama amblycephala x Parabramis pekinensis) x Megalobrama amblycephala mi...
(Megalobrama amblycephala x Parabramis pekinensis) x Megalobrama amblycephala mitochondrion, complete genome
gi|1035438113|gb|KT851549.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001741250	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001974395	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV002048936	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Likely benign (Feb 27, 2021)	germline	clinical testing	Citation Link,
SCV002497083	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Mar 1, 2024)	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	4	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001741250.3

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

#	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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001974395.1

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

#	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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048936.1

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

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV002497083.18

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided

Description

BAG3: BP4, BP7

#	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		4	not provided	not provided	not provided

Last Updated: Oct 26, 2024

ClinVar

Relating variation to medicine

NM_004281.4(BAG3):c.855G>A (p.Thr285=) AND not provided

Allele description [Variation Report for NM_004281.4(BAG3):c.855G>A (p.Thr285=)]

NM_004281.4(BAG3):c.855G>A (p.Thr285=)

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001741250.3

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001974395.1

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048936.1

From CeGaT Center for Human Genetics Tuebingen, SCV002497083.18

Description