GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 AND See cases

Clinical significance:Conflicting interpretations of pathogenicity, Pathogenic(1);Uncertain significance(1) (Last evaluated: Feb 18, 2011)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000050739.9

Allele description [Variation Report for GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3]

GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3

Genes:
  • ADORA2A-AS1:ADORA2A antisense RNA 1 [Gene - HGNC]
  • BCR:BCR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • LOC107963955:BCR-ABL major-breakpoint cluster region [Gene]
  • LOC107963948:BCR-ABL micro-breakpoint cluster region [Gene]
  • LOC107963951:BCR-ABL minor-breakpoint cluster region [Gene]
  • LOC107966121:BCR-ABL p195 breakpoint cluster region [Gene]
  • LOC107963947:BCR-ABL p200 breakpoint cluster region [Gene]
  • LOC107966125:BCR-ABL p225 breakpoint cluster region [Gene]
  • DDTL:D-dopachrome tautomerase like [Gene - HGNC]
  • DDT:D-dopachrome tautomerase [Gene - OMIM - HGNC]
  • GNAZ:G protein subunit alpha z [Gene - OMIM - HGNC]
  • MIF-AS1:MIF antisense RNA 1 [Gene - HGNC]
  • RAB36:RAB36, member RAS oncogene family [Gene - OMIM - HGNC]
  • LOC108491832:RAB36-BCR intergenic enhancer-blocking element 22-1 [Gene]
  • SPECC1L-ADORA2A:SPECC1L-ADORA2A readthrough (NMD candidate) [Gene - HGNC]
  • SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]
  • LOC112694770:Sharpr-MPRA regulatory region 10281 [Gene]
  • LOC111828506:Sharpr-MPRA regulatory regions 962 and 2236 [Gene]
  • VPREB3:V-set pre-B cell surrogate light chain 3 [Gene - OMIM - HGNC]
  • ADORA2A:adenosine A2a receptor [Gene - OMIM - HGNC]
  • DRICH1:aspartate rich 1 [Gene - HGNC]
  • UPB1:beta-ureidopropionase 1 [Gene - OMIM - HGNC]
  • CABIN1:calcineurin binding protein 1 [Gene - OMIM - HGNC]
  • C22orf15:chromosome 22 open reading frame 15 [Gene - HGNC]
  • CHCHD10:coiled-coil-helix-coiled-coil-helix domain containing 10 [Gene - OMIM - HGNC]
  • DERL3:derlin 3 [Gene - OMIM - HGNC]
  • FAM230I:family with sequence similarity 230 member I [Gene - HGNC]
  • GGT5:gamma-glutamyltransferase 5 [Gene - OMIM - HGNC]
  • GSTT2:glutathione S-transferase theta 2 (gene/pseudogene) [Gene - OMIM - HGNC]
  • GSTT2B:glutathione S-transferase theta 2B [Gene - HGNC]
  • GSTT4:glutathione S-transferase theta 4 [Gene - HGNC]
  • GUCD1:guanylyl cyclase domain containing 1 [Gene - OMIM - HGNC]
  • IGLC1:immunoglobulin lambda constant 1 [Gene - OMIM - HGNC]
  • IGLC2:immunoglobulin lambda constant 2 [Gene - HGNC]
  • IGLC3:immunoglobulin lambda constant 3 (Kern-Oz+ marker) [Gene - HGNC]
  • IGLC7:immunoglobulin lambda constant 7 [Gene - HGNC]
  • IGLJ1:immunoglobulin lambda joining 1 [Gene - HGNC]
  • IGLJ2:immunoglobulin lambda joining 2 [Gene - HGNC]
  • IGLJ3:immunoglobulin lambda joining 3 [Gene - HGNC]
  • IGLJ4:immunoglobulin lambda joining 4 (non-functional) [Gene - HGNC]
  • IGLJ5:immunoglobulin lambda joining 5 (non-functional) [Gene - HGNC]
  • IGLJ6:immunoglobulin lambda joining 6 [Gene - HGNC]
  • IGLJ7:immunoglobulin lambda joining 7 [Gene - HGNC]
  • IGLL1:immunoglobulin lambda like polypeptide 1 [Gene - OMIM - HGNC]
  • IGLL5:immunoglobulin lambda like polypeptide 5 [Gene - HGNC]
  • IGL:immunoglobulin lambda locus [Gene - HGNC]
  • IGLV2-11:immunoglobulin lambda variable 2-11 [Gene - HGNC]
  • IGLV2-14:immunoglobulin lambda variable 2-14 [Gene - HGNC]
  • IGLV2-18:immunoglobulin lambda variable 2-18 [Gene - HGNC]
  • IGLV2-23:immunoglobulin lambda variable 2-23 [Gene - HGNC]
  • IGLV2-8:immunoglobulin lambda variable 2-8 [Gene - HGNC]
  • IGLV3-10:immunoglobulin lambda variable 3-10 [Gene - HGNC]
  • IGLV3-12:immunoglobulin lambda variable 3-12 [Gene - HGNC]
  • IGLV3-16:immunoglobulin lambda variable 3-16 [Gene - HGNC]
  • IGLV3-19:immunoglobulin lambda variable 3-19 [Gene - HGNC]
  • IGLV3-1:immunoglobulin lambda variable 3-1 [Gene - HGNC]
  • IGLV3-21:immunoglobulin lambda variable 3-21 [Gene - HGNC]
  • IGLV3-22:immunoglobulin lambda variable 3-22 [Gene - HGNC]
  • IGLV3-25:immunoglobulin lambda variable 3-25 [Gene - HGNC]
  • IGLV3-9:immunoglobulin lambda variable 3-9 [Gene - HGNC]
  • IGLV4-3:immunoglobulin lambda variable 4-3 [Gene - HGNC]
  • LINC01659:long intergenic non-protein coding RNA 1659 [Gene - HGNC]
  • LINC02556:long intergenic non-protein coding RNA 2556 [Gene - HGNC]
  • LINC02557:long intergenic non-protein coding RNA 2557 [Gene - HGNC]
  • MIF:macrophage migration inhibitory factor [Gene - OMIM - HGNC]
  • MMP11:matrix metallopeptidase 11 [Gene - OMIM - HGNC]
  • MIR5571:microRNA 5571 [Gene - HGNC]
  • MIR650:microRNA 650 [Gene - OMIM - HGNC]
  • PCAT14:prostate cancer associated transcript 14 [Gene - HGNC]
  • RSPH14:radial spoke head 14 homolog [Gene - OMIM - HGNC]
  • RGL4:ral guanine nucleotide dissociation stimulator like 4 [Gene - OMIM - HGNC]
  • LOC111721702:skeletal muscle cis-regulatory module in CABIN1 intron [Gene]
  • LOC111721701:skeletal muscle cis-regulatory module in DERL3 and SLC2A11 intergenic region [Gene]
  • SNRPD3:small nuclear ribonucleoprotein D3 polypeptide [Gene - OMIM - HGNC]
  • SLC2A11:solute carrier family 2 member 11 [Gene - OMIM - HGNC]
  • SPECC1L:sperm antigen with calponin homology and coiled-coil domains 1 like [Gene - OMIM - HGNC]
  • SUSD2:sushi domain containing 2 [Gene - OMIM - HGNC]
  • ZNF70:zinc finger protein 70 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
22q11.22-11.23
Genomic location:
Preferred name:
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3
HGVS:
  • NC_000022.11:g.(?_22669543)_(24563859_?)dup
  • NC_000022.10:g.(?_23012013)_(24959827_?)dup
  • NC_000022.9:g.(?_21342013)_(23289827_?)dup
Links:
dbVar: nssv3396632; dbVar: nssv575342; dbVar: nssv582968; dbVar: nssv706420; dbVar: nsv529346
Observations:
4

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000175297ISCA site 4

See additional submitters

no assertion criteria providedPathogenic
(May 27, 2010)
maternalclinical testing

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

SCV000175298ISCA site 1

See additional submitters

no assertion criteria providedUncertain significance
(Feb 18, 2011)
maternal, not providedclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000175297

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000175297

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000175298

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000175298

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes3not providednot providednot providednot providedclinical testing
humannot 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 4, SCV000175297.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedDiscovery1not providednot providednot provided
2maternalyesnot providednot providedDiscovery1not providednot providednot provided

From ISCA site 1, SCV000175298.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedDiscovery1not providednot providednot provided
2not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Mar 12, 2021

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