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GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 25, 2018
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:
RCV000848992.2

Allele description [Variation Report for GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1]

GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1

Genes:
  • BCR:BCR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • TOP3B:DNA topoisomerase III beta [Gene - OMIM - HGNC]
  • GNAZ:G protein subunit alpha z [Gene - OMIM - HGNC]
  • PPM1F-AS1:PPM1F antisense RNA 1 [Gene - HGNC]
  • PRAME:PRAME nuclear receptor transcriptional regulator [Gene - OMIM - HGNC]
  • RAB36:RAB36, member RAS oncogene family [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]
  • GGTLC2:gamma-glutamyltransferase light chain 2 [Gene - OMIM - HGNC]
  • IGLC1:immunoglobulin lambda constant 1 [Gene - OMIM - HGNC]
  • IGLL5:immunoglobulin lambda like polypeptide 5 [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]
  • RSPH14:radial spoke head 14 homolog [Gene - OMIM - HGNC]
  • SDF2L1:stromal cell derived factor 2 like 1 [Gene - OMIM - 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:
22q11.21-11.23
Genomic location:
Chr22: 21922619 - 23654064 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1
HGVS:
NC_000022.10:g.(?_21922619)_(23654064_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000991134Bionano Laboratories
no assertion criteria provided
Pathogenic
(Jul 25, 2018) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Bionano Laboratories, SCV000991134.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providedBuccalnot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023