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GRCh37/hg19 9q34.3(chr9:138147997-138238503) AND Abnormal esophagus morphology

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 15, 2015
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:
RCV000416629.1

Allele description [Variation Report for GRCh37/hg19 9q34.3(chr9:138147997-138238503)]

GRCh37/hg19 9q34.3(chr9:138147997-138238503)

Gene:
LINC02907:long intergenic non-protein coding RNA 2907 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
9q34.3
Genomic location:
Chr9: 138147997 - 138238503 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9q34.3(chr9:138147997-138238503)

Condition(s)

Name:
Abnormal esophagus morphology
Synonyms:
Abnormality of esophagus morphology
Identifiers:
MedGen: C0266126; Human Phenotype Ontology: HP:0002031

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000266656Clinical Genetics, Erasmus University Medical Center
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Benign
(Dec 15, 2015) 		unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.

Brosens E, Marsch F, de Jong EM, Zaveri HP, Hilger AC, Choinitzki VG, Hölscher A, Hoffmann P, Herms S, Boemers TM, Ure BM, Lacher M, Ludwig M, Eussen BH, van der Helm RM, Douben H, Van Opstal D, Wijnen RM, Beverloo HB, van Bever Y, Brooks AS, IJsselstijn H, et al.

Eur J Hum Genet. 2016 Dec;24(12):1715-1723. doi: 10.1038/ejhg.2016.86. Epub 2016 Jul 20.

PubMed [citation]
PMID:
27436264
PMCID:
PMC5117935

Details of each submission

From Clinical Genetics, Erasmus University Medical Center, SCV000266656.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022