GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 AND See cases

Clinical significance:Uncertain significance (Last evaluated: Aug 12, 2011)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000148169.2

Allele description [Variation Report for GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3]

GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3

Genes:
  • ADORA2A-AS1:ADORA2A antisense RNA 1 [Gene - HGNC]
  • DDTL:D-dopachrome tautomerase like [Gene - HGNC]
  • DDT:D-dopachrome tautomerase [Gene - OMIM - HGNC]
  • MIF-AS1:MIF antisense RNA 1 [Gene - HGNC]
  • 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 - HGNC]
  • IGLL1:immunoglobulin lambda like polypeptide 1 [Gene - OMIM - HGNC]
  • LINC01659:long intergenic non-protein coding RNA 1659 [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]
  • PCAT14:prostate cancer associated transcript 14 [Gene - 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:
22q11.23
Genomic location:
Preferred name:
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3
HGVS:
  • NC_000022.11:g.(?_23377984)_(24563859_?)dup
  • NC_000022.10:g.(?_23720171)_(24959827_?)dup
  • NC_000022.9:g.(?_22050171)_(23289827_?)dup
Links:
dbVar: nssv580292; dbVar: nssv580293; dbVar: nsv1067655
Observations:
2

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
SCV000190904ISCA site 14

See additional submitters

criteria provided, single submitter
Uncertain significance
(Aug 12, 2011)
paternalclinical testing

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

SCV000190905ISCA site 17

See additional submitters

criteria provided, single submitter
Uncertain significance
(Aug 12, 2011)
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. Clinical assertions have been curated as described in Kaminsky et al. 2011.

SCV000190904

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011.

SCV000190905

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing
not providedpaternalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 14, SCV000190904.2

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

From ISCA site 17, SCV000190905.2

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

Last Updated: Nov 26, 2020

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