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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000266656	Clinical Genetics, Erasmus University Medical Center	criteria provided, single submitter (ACMG CNV Guidelines, 2011)	Benign (Dec 15, 2015)	unknown	research	PubMed (2) [See all records that cite these PMIDs] 21681106, 27436264

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000266656

Clinical Genetics, Erasmus University Medical Center

criteria provided, single submitter

(ACMG CNV Guidelines, 2011)

Benign
(Dec 15, 2015)

unknown

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	research

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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