NM_139276.3(STAT3):c.1775AGCGGG[3] (p.Arg595_Ala596insGluArg) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 8, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003804971.2

Allele description [Variation Report for NM_139276.3(STAT3):c.1775AGCGGG[3] (p.Arg595_Ala596insGluArg)]

NM_139276.3(STAT3):c.1775AGCGGG[3] (p.Arg595_Ala596insGluArg)

Gene:

STAT3:signal transducer and activator of transcription 3 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_139276.3(STAT3):c.1775AGCGGG[3] (p.Arg595_Ala596insGluArg)

HGVS:

NC_000017.11:g.42323108CGCTCC[3]
NG_007370.1:g.70379AGCGGG[3]
NM_001369512.1:c.1775AGCGGG[3]
NM_001369513.1:c.1775AGCGGG[3]
NM_001369514.1:c.1775AGCGGG[3]
NM_001369516.1:c.1775AGCGGG[3]
NM_001369517.1:c.1775AGCGGG[3]
NM_001369518.1:c.1775AGCGGG[3]
NM_001369519.1:c.1775AGCGGG[3]
NM_001369520.1:c.1775AGCGGG[3]
NM_001384984.1:c.1691AGCGGG[3]
NM_001384985.1:c.1697AGCGGG[3]
NM_001384986.1:c.1790AGCGGG[3]
NM_001384987.1:c.1754AGCGGG[3]
NM_001384988.1:c.1775AGCGGG[3]
NM_001384989.1:c.1679AGCGGG[3]
NM_001384990.1:c.1790AGCGGG[3]
NM_001384991.1:c.1748AGCGGG[3]
NM_001384992.1:c.1715AGCGGG[3]
NM_001384993.1:c.1775AGCGGG[3]
NM_003150.4:c.1775AGCGGG[3]
NM_139276.3:c.1775AGCGGG[3]MANE SELECT
NM_213662.2:c.1775AGCGGG[3]
NP_001356441.1:p.Arg595_Ala596insGluArg
NP_001356442.1:p.Arg595_Ala596insGluArg
NP_001356443.1:p.Arg595_Ala596insGluArg
NP_001356445.1:p.Arg595_Ala596insGluArg
NP_001356446.1:p.Arg595_Ala596insGluArg
NP_001356447.1:p.Arg595_Ala596insGluArg
NP_001356448.1:p.Arg595_Ala596insGluArg
NP_001356449.1:p.Arg595_Ala596insGluArg
NP_001371913.1:p.Arg567_Ala568insGluArg
NP_001371914.1:p.Arg569_Ala570insGluArg
NP_001371915.1:p.Arg600_Ala601insGluArg
NP_001371916.1:p.Arg588_Ala589insGluArg
NP_001371917.1:p.Arg595_Ala596insGluArg
NP_001371918.1:p.Arg563_Ala564insGluArg
NP_001371919.1:p.Arg600_Ala601insGluArg
NP_001371920.1:p.Arg586_Ala587insGluArg
NP_001371921.1:p.Arg575_Ala576insGluArg
NP_001371922.1:p.Arg595_Ala596insGluArg
NP_003141.2:p.Arg595_Ala596insGluArg
NP_644805.1:p.Arg595_Ala596insGluArg
NP_644805.1:p.Arg595_Ala596insGluArg
NP_998827.1:p.Arg595_Ala596insGluArg
LRG_112t1:c.1773_1778GGAGCG[3]
LRG_112:g.70379AGCGGG[3]
LRG_112p1:p.Arg595_Ala596insGluArg
NC_000017.10:g.40475123_40475124insCCCGCT
NC_000017.10:g.40475126CGCTCC[3]
NM_139276.2:c.1773_1778GGAGCG[3]

Molecular consequence:

NM_001369512.1:c.1775AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369513.1:c.1775AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369514.1:c.1775AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369516.1:c.1775AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369517.1:c.1775AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369518.1:c.1775AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369519.1:c.1775AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369520.1:c.1775AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001384984.1:c.1691AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001384985.1:c.1697AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001384986.1:c.1790AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001384987.1:c.1754AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001384988.1:c.1775AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001384989.1:c.1679AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001384990.1:c.1790AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001384991.1:c.1748AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001384992.1:c.1715AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001384993.1:c.1775AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_003150.4:c.1775AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_139276.3:c.1775AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_213662.2:c.1775AGCGGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Synonyms:: Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant; HIES autosomal dominant; AD hyperimmunoglobulin E syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007818; MedGen: CN031130; Orphanet: 2314; OMIM: 147060

Name:: STAT3 gain of function
Identifiers:: MedGen: C4288261

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004608479	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 8, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004608479

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 8, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004608479.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant, c.1781_1786dup, results in the insertion of 2 amino acid(s) of the STAT3 protein (p.Glu594_Arg595dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with STAT3-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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