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NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 24, 2021)
Last evaluated:
Jun 1, 2020
Accession:
VCV000234982.4
Variation ID:
234982
Description:
single nucleotide variant
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NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter)

Allele ID
236775
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q26.11
Genomic location
10: 119672446 (GRCh38) GRCh38 UCSC
10: 121431958 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.121431958C>A
NC_000010.11:g.119672446C>A
NG_016125.1:g.26077C>A
... more HGVS
Protein change
Y233*
Other names
-
Canonical SPDI
NC_000010.11:119672445:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10581154
dbSNP: rs876661342
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Jun 1, 2020 RCV000223884.2
Pathogenic 1 criteria provided, single submitter Aug 10, 2018 RCV000463650.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BAG3 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
573 603

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 10, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1HH
Myofibrillar myopathy, BAG3-related
Allele origin: germline
Invitae
Accession: SCV000550825.4
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Tyr233*) in the BAG3 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jun 01, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000564689.3
Submitted: (Sep 24, 2021)
Evidence details
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Likely pathogenic
(Jul 22, 2015)
no assertion criteria provided
Method: clinical testing
Not provided
Allele origin: germline
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280054.1
Submitted: (May 06, 2016)
Evidence details
Comment:
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs876661342...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 04, 2021