NM_139276.3(STAT3):c.2082T>A (p.His694Gln) AND not specified

Clinical significance:Conflicting interpretations of pathogenicity, Uncertain significance(1); Likely benign(1) (Last evaluated: Feb 17, 2020)
Review status:1 star out of maximum of 4 stars
criteria provided, conflicting interpretations

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Based on:: 2 submissions [Details]
Record status:: current
Accession:: RCV000781324.5

Allele description [Variation Report for NM_139276.3(STAT3):c.2082T>A (p.His694Gln)]

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

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.2082T>A (p.His694Gln)

HGVS:

NC_000017.11:g.42322301A>T
NG_007370.1:g.71195T>A
NM_001369512.1:c.2082T>A
NM_001369513.1:c.2082T>A
NM_001369514.1:c.2082T>A
NM_001369516.1:c.2082T>A
NM_001369517.1:c.2082T>A
NM_001369518.1:c.2082T>A
NM_001369519.1:c.2082T>A
NM_001369520.1:c.2082T>A
NM_001384984.1:c.1998T>A
NM_001384985.1:c.2004T>A
NM_001384986.1:c.2097T>A
NM_001384987.1:c.2061T>A
NM_001384988.1:c.2082T>A
NM_001384989.1:c.1986T>A
NM_001384990.1:c.2097T>A
NM_001384991.1:c.2055T>A
NM_001384992.1:c.2022T>A
NM_001384993.1:c.2082T>A
NM_003150.4:c.2082T>A
NM_139276.3:c.2082T>AMANE SELECT
NM_213662.2:c.2082T>A
NP_001356441.1:p.His694Gln
NP_001356442.1:p.His694Gln
NP_001356443.1:p.His694Gln
NP_001356445.1:p.His694Gln
NP_001356446.1:p.His694Gln
NP_001356447.1:p.His694Gln
NP_001356448.1:p.His694Gln
NP_001356449.1:p.His694Gln
NP_001371913.1:p.His666Gln
NP_001371914.1:p.His668Gln
NP_001371915.1:p.His699Gln
NP_001371916.1:p.His687Gln
NP_001371917.1:p.His694Gln
NP_001371918.1:p.His662Gln
NP_001371919.1:p.His699Gln
NP_001371920.1:p.His685Gln
NP_001371921.1:p.His674Gln
NP_001371922.1:p.His694Gln
NP_003141.2:p.His694Gln
NP_644805.1:p.His694Gln
NP_644805.1:p.His694Gln
NP_998827.1:p.His694Gln
LRG_112t1:c.2082T>A
LRG_112:g.71195T>A
LRG_112p1:p.His694Gln
NC_000017.10:g.40474319A>T
NM_139276.2:c.2082T>A

Protein change:

H662Q

Links:

dbSNP: rs139701269

NCBI 1000 Genomes Browser:

rs139701269

Molecular consequence:

NM_001369512.1:c.2082T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369513.1:c.2082T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369514.1:c.2082T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369516.1:c.2082T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369517.1:c.2082T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369518.1:c.2082T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369519.1:c.2082T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369520.1:c.2082T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384984.1:c.1998T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384985.1:c.2004T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384986.1:c.2097T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384987.1:c.2061T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384988.1:c.2082T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384989.1:c.1986T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384990.1:c.2097T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384991.1:c.2055T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384992.1:c.2022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384993.1:c.2082T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003150.4:c.2082T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139276.3:c.2082T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_213662.2:c.2082T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000919270	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter LabCorp Variant Classification Summary - May 2015	Uncertain significance (Jun 7, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV002066309	Genetic Services Laboratory,University of Chicago	criteria provided, single submitter ACMG Guidelines, 2015	Likely benign (Feb 17, 2020)	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

SCV000919270

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

LabCorp Variant Classification Summary - May 2015

Uncertain significance
(Jun 7, 2018)

germline

clinical testing

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

Citation Link,

SCV002066309

Genetic Services Laboratory,University of Chicago

criteria provided, single submitter

ACMG Guidelines, 2015

Likely benign
(Feb 17, 2020)

germline

clinical testing

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

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Systematic STAT3 sequencing in patients with unexplained cytopenias identifies unsuspected large granular lymphocytic leukemia.

Morgan EA, Lee MN, DeAngelo DJ, Steensma DP, Stone RM, Kuo FC, Aster JC, Gibson CJ, Lindsley RC.

Blood Adv. 2017 Sep 26;1(21):1786-1789. doi: 10.1182/bloodadvances.2017011197. No abstract available.

PubMed [citation]

PMID:: 29296824
PMCID:: PMC5728102

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919270.1

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

#	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

From Genetic Services Laboratory,University of Chicago, SCV002066309.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 24, 2022

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