NM_139276.3(STAT3):c.753C>A (p.Cys251Ter) AND multiple conditions

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 27, 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:: RCV003809557.1

Allele description

NM_139276.3(STAT3):c.753C>A (p.Cys251Ter)

Genes:

LOC130060888:ATAC-STARR-seq lymphoblastoid active region 12197 [Gene]
STAT3:signal transducer and activator of transcription 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_139276.3(STAT3):c.753C>A (p.Cys251Ter)

HGVS:

NC_000017.11:g.42337479G>T
NG_007370.1:g.56017C>A
NG_196138.1:g.216G>T
NM_001369512.1:c.753C>A
NM_001369513.1:c.753C>A
NM_001369514.1:c.753C>A
NM_001369516.1:c.753C>A
NM_001369517.1:c.753C>A
NM_001369518.1:c.753C>A
NM_001369519.1:c.753C>A
NM_001369520.1:c.753C>A
NM_001384984.1:c.753C>A
NM_001384985.1:c.675C>A
NM_001384986.1:c.753C>A
NM_001384987.1:c.753C>A
NM_001384988.1:c.753C>A
NM_001384989.1:c.657C>A
NM_001384990.1:c.753C>A
NM_001384991.1:c.753C>A
NM_001384992.1:c.753C>A
NM_001384993.1:c.753C>A
NM_003150.4:c.753C>A
NM_139276.3:c.753C>AMANE SELECT
NM_213662.2:c.753C>A
NP_001356441.1:p.Cys251Ter
NP_001356442.1:p.Cys251Ter
NP_001356443.1:p.Cys251Ter
NP_001356445.1:p.Cys251Ter
NP_001356446.1:p.Cys251Ter
NP_001356447.1:p.Cys251Ter
NP_001356448.1:p.Cys251Ter
NP_001356449.1:p.Cys251Ter
NP_001371913.1:p.Cys251Ter
NP_001371914.1:p.Cys225Ter
NP_001371915.1:p.Cys251Ter
NP_001371916.1:p.Cys251Ter
NP_001371917.1:p.Cys251Ter
NP_001371918.1:p.Cys219Ter
NP_001371919.1:p.Cys251Ter
NP_001371920.1:p.Cys251Ter
NP_001371921.1:p.Cys251Ter
NP_001371922.1:p.Cys251Ter
NP_003141.2:p.Cys251Ter
NP_644805.1:p.Cys251Ter
NP_644805.1:p.Cys251Ter
NP_998827.1:p.Cys251Ter
LRG_112t1:c.753C>A
LRG_112:g.56017C>A
LRG_112p1:p.Cys251Ter
NC_000017.10:g.40489497G>T
NM_139276.2:c.753C>A

Protein change:

C219*

Molecular consequence:

NM_001369512.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001369513.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001369514.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001369516.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001369517.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001369518.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001369519.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001369520.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001384984.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001384985.1:c.675C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001384986.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001384987.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001384988.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001384989.1:c.657C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001384990.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001384991.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001384992.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001384993.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_003150.4:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_139276.3:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_213662.2:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

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zinc finger protein 219 [Homo sapiens]
zinc finger protein 219 [Homo sapiens]
gi|156416026|ref|NP_001095924.1|

Protein
Homo sapiens abhydrolase domain containing 18 (ABHD18), transcript variant 4, mR...
Homo sapiens abhydrolase domain containing 18 (ABHD18), transcript variant 4, mRNA
gi|1890274565|ref|NM_001358451.3|

Nucleotide
Homo sapiens ovarian-specific protein mRNA, complete cds
Homo sapiens ovarian-specific protein mRNA, complete cds
gi|33150793|gb|AF145023.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004596308	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 27, 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

SCV004596308

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 27, 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 Invitae, SCV004596308.1

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

Description

This sequence change creates a premature translational stop signal (p.Cys251*) in the STAT3 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in STAT3 cause disease. 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: Jun 23, 2024

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