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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

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000919270Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Jun 7, 2018)
germlineclinical testing

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

Citation Link,

SCV002066309Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Likely benign
(Feb 17, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 24, 2022

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