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NM_139276.3(STAT3):c.2082T>A (p.His694Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Uncertain significance(2); Likely benign(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3
First in ClinVar:
Jun 3, 2019
Most recent Submission:
May 16, 2022
Last evaluated:
Dec 8, 2021
Accession:
VCV000633187.8
Variation ID:
633187
Description:
single nucleotide variant
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NM_139276.3(STAT3):c.2082T>A (p.His694Gln)

Allele ID
621567
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42322301 (GRCh38) GRCh38 UCSC
17: 40474319 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_139276.3:c.2082T>A MANE Select NP_644805.1:p.His694Gln missense
NM_001369512.1:c.2082T>A NP_001356441.1:p.His694Gln missense
NM_001369513.1:c.2082T>A NP_001356442.1:p.His694Gln missense
... more HGVS
Protein change
H694Q, H668Q, H674Q, H685Q, H687Q, H699Q, H662Q, H666Q
Other names
-
Canonical SPDI
NC_000017.11:42322300:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00008
The Genome Aggregation Database (gnomAD) 0.00011
Exome Aggregation Consortium (ExAC) 0.00007
Trans-Omics for Precision Medicine (TOPMed) 0.00012
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00019
Links
dbSNP: rs139701269
VarSome
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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 Dec 8, 2021 RCV001070774.4
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 17, 2020 RCV000781324.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
STAT3 - - GRCh38
GRCh37
497 505

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jun 07, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Affected status: unknown
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919270.1
First in ClinVar: Jun 03, 2019
Last updated: Jun 03, 2019
Publications:
PubMed (1)
PubMed: 29296824
Likely benign
(Feb 17, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Affected status: no
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV002066309.1
First in ClinVar: Jan 29, 2022
Last updated: Jan 29, 2022
Uncertain significance
(Dec 08, 2021)
criteria provided, single submitter
Method: clinical testing
STAT3 gain of function
Hyper-IgE recurrent infection syndrome 1
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001236042.3
First in ClinVar: Apr 15, 2020
Last updated: May 16, 2022
Publications:
PubMed (1)
PubMed: 29296824
Comment:
This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 694 of the STAT3 protein (p.His694Gln). … (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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Title Author Journal Year Link
Systematic STAT3 sequencing in patients with unexplained cytopenias identifies unsuspected large granular lymphocytic leukemia. Morgan EA Blood advances 2017 PMID: 29296824

Text-mined citations for rs139701269...

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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 Jun 24, 2022