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NM_001282933.2(ZNF341):c.904C>T (p.Arg302Ter)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 16, 2019)
Last evaluated:
Jan 16, 2019
Accession:
VCV000599410.1
Variation ID:
599410
Description:
single nucleotide variant
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NM_001282933.2(ZNF341):c.904C>T (p.Arg302Ter)

Allele ID
590747
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20q11.22
Genomic location
20: 33757310 (GRCh38) GRCh38 UCSC
20: 32345116 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.32345116C>T
NC_000020.11:g.33757310C>T
NM_001282933.2:c.904C>T NP_001269862.1:p.Arg302Ter nonsense
... more HGVS
Protein change
R302*
Other names
ZNF341, ARG302TER (rs746141726)
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
OMIM: 618269.0001
dbSNP: rs746141726
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jan 16, 2019 RCV000736035.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ZNF341 - - GRCh38
GRCh37
5 18

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 16, 2019)
no assertion criteria provided
Method: literature only
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
Allele origin: germline
OMIM
Accession: SCV000864254.1
Submitted: (Jan 16, 2019)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. B├ęziat V Science immunology 2018 PMID: 29907691
ZNF341 controls STAT3 expression and thereby immunocompetence. Frey-Jakobs S Science immunology 2018 PMID: 29907690

Record last updated Aug 30, 2019