U.S. flag

An official website of the United States government

GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 16, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000511924.3

Allele description [Variation Report for GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x1]

GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x1

Genes:
  • TOP3B:DNA topoisomerase III beta [Gene - OMIM - HGNC]
  • HIC2:HIC ZBTB transcriptional repressor 2 [Gene - OMIM - HGNC]
  • PPM1F-AS1:PPM1F antisense RNA 1 [Gene - HGNC]
  • PRAME:PRAME nuclear receptor transcriptional regulator [Gene - OMIM - HGNC]
  • RIMBP3C:RIMS binding protein 3C [Gene - OMIM - HGNC]
  • VPREB1:V-set pre-B cell surrogate light chain 1 [Gene - OMIM - HGNC]
  • YDJC:YdjC chitooligosaccharide deacetylase homolog [Gene - OMIM - HGNC]
  • CCDC116:coiled-coil domain containing 116 [Gene - HGNC]
  • MIR130B:microRNA 130b [Gene - OMIM - HGNC]
  • MAPK1:mitogen-activated protein kinase 1 [Gene - OMIM - HGNC]
  • PPIL2:peptidylprolyl isomerase like 2 [Gene - OMIM - HGNC]
  • PPM1F:protein phosphatase, Mg2+/Mn2+ dependent 1F [Gene - OMIM - HGNC]
  • SDF2L1:stromal cell derived factor 2 like 1 [Gene - OMIM - HGNC]
  • TMEM191C:transmembrane protein 191C [Gene - HGNC]
  • UBE2L3:ubiquitin conjugating enzyme E2 L3 [Gene - OMIM - HGNC]
  • YPEL1:yippee like 1 [Gene - OMIM - HGNC]
  • ZNF280A:zinc finger protein 280A [Gene - HGNC]
  • ZNF280B:zinc finger protein 280B [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
22q11.21-11.22
Genomic location:
Chr22: 21798907 - 22962962 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x1
HGVS:
NC_000022.10:g.(?_21798907)_(22962962_?)del
Links:
dbVar: nssv13647688; dbVar: nsv2773982
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000585250ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jun 16, 2014) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000585250.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024