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NM_004281.3(BAG3):c.1027C>T (p.Arg343Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 2, 2018
Accession:
VCV000658377.1
Variation ID:
658377
Description:
single nucleotide variant
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NM_004281.3(BAG3):c.1027C>T (p.Arg343Cys)

Allele ID
638753
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q26.11
Genomic location
10: 119676581 (GRCh38) GRCh38 UCSC
10: 121436093 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.121436093C>T
NC_000010.11:g.119676581C>T
NM_004281.3:c.1027C>T NP_004272.2:p.Arg343Cys missense
... more HGVS
Protein change
R343C
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 2, 2018 RCV000815195.1
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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
342 369

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 02, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1HH
Myofibrillar myopathy, BAG3-related
Allele origin: germline
Invitae
Accession: SCV000955643.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces arginine with cysteine at codon 343 of the BAG3 protein (p.Arg343Cys). The arginine residue is weakly conserved and there is a ... (more)

Citations for this variant

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

Record last updated Dec 27, 2019