GRCh37/hg19 22q11.21(chr22:18894835-20311763) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2017
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:: RCV000626527.2

Allele description [Variation Report for GRCh37/hg19 22q11.21(chr22:18894835-20311763)]

GRCh37/hg19 22q11.21(chr22:18894835-20311763)

Genes:

ARVCF:ARVCF delta catenin family member [Gene - OMIM - HGNC]
DGCR8:DGCR8 microprocessor complex subunit [Gene - OMIM - HGNC]
DGCR2:DiGeorge syndrome critical region gene 2 [Gene - OMIM - HGNC]
DGCR6L:DiGeorge syndrome critical region gene 6 like [Gene - OMIM - HGNC]
DGCR6:DiGeorge syndrome critical region gene 6 [Gene - OMIM - HGNC]
GNB1L:G protein subunit beta 1 like [Gene - OMIM - HGNC]
RANBP1:RAN binding protein 1 [Gene - OMIM - HGNC]
TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]
COMT:catechol-O-methyltransferase [Gene - OMIM - HGNC]
CDC45:cell division cycle 45 [Gene - OMIM - HGNC]
C22orf39:chromosome 22 open reading frame 39 [Gene - HGNC]
CLTCL1:clathrin heavy chain like 1 [Gene - OMIM - HGNC]
CLDN5:claudin 5 [Gene - OMIM - HGNC]
ESS2:ess-2 splicing factor homolog [Gene - OMIM - HGNC]
GP1BB:glycoprotein Ib platelet subunit beta [Gene - OMIM - HGNC]
GSC2:goosecoid homeobox 2 [Gene - OMIM - HGNC]
HIRA:histone cell cycle regulator [Gene - OMIM - HGNC]
MRPL40:mitochondrial ribosomal protein L40 [Gene - OMIM - HGNC]
PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]
RTN4R:reticulon 4 receptor [Gene - OMIM - HGNC]
RTL10:retrotransposon Gag like 10 [Gene - OMIM - HGNC]
SEPTIN5:septin 5 [Gene - OMIM - HGNC]
SLC25A1:solute carrier family 25 member 1 [Gene - OMIM - HGNC]
TRMT2A:tRNA methyltransferase 2 homolog A [Gene - OMIM - HGNC]
TSSK2:testis specific serine kinase 2 [Gene - OMIM - HGNC]
TXNRD2:thioredoxin reductase 2 [Gene - OMIM - HGNC]
TANGO2:transport and golgi organization 2 homolog [Gene - OMIM - HGNC]
UFD1:ubiquitin recognition factor in ER associated degradation 1 [Gene - OMIM - HGNC]
ZDHHC8:zDHHC palmitoyltransferase 8 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

22q11.21

Genomic location:

Chr22: 18894835 - 20311763 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 22q11.21(chr22:18894835-20311763)

HGVS:

NC_000022.10:g.(?_18894835)_(20311763_?)del

Condition(s)

Name:: Astigmatism
Identifiers:: MONDO: MONDO:0011284; MedGen: C0004106; OMIM: 603047; Human Phenotype Ontology: HP:0000483

Name:: Velopharyngeal insufficiency
Synonyms:: Congenital velopharyngeal incompetence
Identifiers:: MONDO: MONDO:0008180; MedGen: C0042454; OMIM: 167500; Human Phenotype Ontology: HP:0000220

Name:: Inguinal hernia
Identifiers:: MedGen: C0019294; Human Phenotype Ontology: HP:0000023

Name:: Feeding difficulties
Identifiers:: MedGen: C0232466; Human Phenotype Ontology: HP:0011968

Name:: Vomiting
Identifiers:: MedGen: C0042963; Human Phenotype Ontology: HP:0002013

Name:: Umbilical hernia
Identifiers:: MedGen: C0019322; Human Phenotype Ontology: HP:0001537

Name:: Speech articulation difficulties
Identifiers:: MedGen: C1865313; Human Phenotype Ontology: HP:0009088

Name:: Ectopic thymus tissue
Identifiers:: MedGen: C4023795; Human Phenotype Ontology: HP:0010517

Name:: Abnormal soft palate morphology
Synonyms:: Abnormality of the soft palate
Identifiers:: MedGen: C4021984; Human Phenotype Ontology: HP:0100736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000747228	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2017)	unknown	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

SCV000747228

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2017)

unknown

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747228.1

#	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	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 28, 2025

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