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NM_139276.3(STAT3):c.1339C>G (p.His447Asp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 29, 2022
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:
RCV003229963.1

Allele description [Variation Report for NM_139276.3(STAT3):c.1339C>G (p.His447Asp)]

NM_139276.3(STAT3):c.1339C>G (p.His447Asp)

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.1339C>G (p.His447Asp)
Other names:
p.H447D
HGVS:
  • NC_000017.11:g.42326142G>C
  • NG_007370.1:g.67354C>G
  • NM_001369512.1:c.1339C>G
  • NM_001369513.1:c.1339C>G
  • NM_001369514.1:c.1339C>G
  • NM_001369516.1:c.1339C>G
  • NM_001369517.1:c.1339C>G
  • NM_001369518.1:c.1339C>G
  • NM_001369519.1:c.1339C>G
  • NM_001369520.1:c.1339C>G
  • NM_001384984.1:c.1282-1081C>G
  • NM_001384985.1:c.1261C>G
  • NM_001384986.1:c.1354C>G
  • NM_001384987.1:c.1339C>G
  • NM_001384988.1:c.1339C>G
  • NM_001384989.1:c.1243C>G
  • NM_001384990.1:c.1354C>G
  • NM_001384991.1:c.1339C>G
  • NM_001384992.1:c.1279C>G
  • NM_001384993.1:c.1339C>G
  • NM_003150.4:c.1339C>G
  • NM_139276.3:c.1339C>GMANE SELECT
  • NM_213662.2:c.1339C>G
  • NP_001356441.1:p.His447Asp
  • NP_001356442.1:p.His447Asp
  • NP_001356443.1:p.His447Asp
  • NP_001356445.1:p.His447Asp
  • NP_001356446.1:p.His447Asp
  • NP_001356447.1:p.His447Asp
  • NP_001356448.1:p.His447Asp
  • NP_001356449.1:p.His447Asp
  • NP_001371914.1:p.His421Asp
  • NP_001371915.1:p.His452Asp
  • NP_001371916.1:p.His447Asp
  • NP_001371917.1:p.His447Asp
  • NP_001371918.1:p.His415Asp
  • NP_001371919.1:p.His452Asp
  • NP_001371920.1:p.His447Asp
  • NP_001371921.1:p.His427Asp
  • NP_001371922.1:p.His447Asp
  • NP_003141.2:p.His447Asp
  • NP_644805.1:p.His447Asp
  • NP_644805.1:p.His447Asp
  • NP_998827.1:p.His447Asp
  • LRG_112t1:c.1339C>G
  • LRG_112:g.67354C>G
  • LRG_112p1:p.His447Asp
  • NC_000017.10:g.40478160G>C
  • NM_139276.2:c.1339C>G
Protein change:
H415D
Molecular consequence:
  • NM_001384984.1:c.1282-1081C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369512.1:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369513.1:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369514.1:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369516.1:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369517.1:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369518.1:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369519.1:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369520.1:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384985.1:c.1261C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384986.1:c.1354C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384987.1:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384988.1:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384989.1:c.1243C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384990.1:c.1354C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384991.1:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384992.1:c.1279C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384993.1:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003150.4:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139276.3:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_213662.2:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003927290GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Nov 29, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV003927290.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18602572)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024