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NM_004281.4(BAG3):c.100_107del (p.Thr34fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 3, 2021)
Last evaluated:
Jun 8, 2021
Accession:
VCV000180009.4
Variation ID:
180009
Description:
8bp deletion
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NM_004281.4(BAG3):c.100_107del (p.Thr34fs)

Allele ID
174608
Variant type
Deletion
Variant length
8 bp
Cytogenetic location
10q26.11
Genomic location
10: 119651774-119651781 (GRCh38) GRCh38 UCSC
10: 121411286-121411293 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.121411287_121411294del
NC_000010.11:g.119651775_119651782del
NG_016125.1:g.5406_5413del
... more HGVS
Protein change
T34fs
Other names
-
Canonical SPDI
NC_000010.11:119651773:GACCGGCTG:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA273668
dbSNP: rs727505283
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 23, 2017 RCV000156812.2
Likely pathogenic 2 criteria provided, single submitter Jun 8, 2021 RCV000786108.3
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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
542 572

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 23, 2017)
criteria provided, single submitter
Method: clinical testing
Primary dilated cardiomyopathy
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000206533.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Thr34AlafsX21 variant in BAG3 has been identified in 2 siblings with DCM ( LMM data) and was absent from large population studies, though the … (more)
Likely pathogenic
(Jun 08, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001766176.1
Submitted: (Aug 03, 2021)
Evidence details
Comment:
Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted … (more)
Likely pathogenic
(Jan 03, 2017)
no assertion criteria provided
Method: provider interpretation
not provided
Allele origin: germline
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000924756.1
Submitted: (Aug 15, 2018)
Evidence details
Comment:
Given the strong evidence implicating frameshift variants in BAG3 in disease and the rarity of the variant, we consider this variant likely pathogenic and we … (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 rs727505283...

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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 Nov 20, 2021