GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 AND See cases

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Sep 16, 2011)

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

no assertion criteria provided

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000053082.10

Allele description [Variation Report for GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1]

GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1

Genes:
  • TOP3B:DNA topoisomerase III beta [Gene - OMIM - HGNC]
  • LOC108491837:IGL region enhancer-blocking element 22-2 [Gene]
  • 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]
  • LOC112694768:Sharpr-MPRA regulatory region 76 [Gene]
  • VPREB1:V-set pre-B cell surrogate light chain 1 [Gene - OMIM - HGNC]
  • LOC110121474:VISTA enhancer hs2026 [Gene]
  • YDJC:YdjC chitooligosaccharide deacetylase homolog [Gene - HGNC]
  • CCDC116:coiled-coil domain containing 116 [Gene - HGNC]
  • IGL:immunoglobulin lambda locus [Gene - HGNC]
  • IGLV1-36:immunoglobulin lambda variable 1-36 [Gene - HGNC]
  • IGLV1-40:immunoglobulin lambda variable 1-40 [Gene - HGNC]
  • IGLV1-44:immunoglobulin lambda variable 1-44 [Gene - HGNC]
  • IGLV1-47:immunoglobulin lambda variable 1-47 [Gene - HGNC]
  • IGLV1-50:immunoglobulin lambda variable 1-50 (non-functional) [Gene - HGNC]
  • IGLV1-51:immunoglobulin lambda variable 1-51 [Gene - HGNC]
  • IGLV10-54:immunoglobulin lambda variable 10-54 [Gene - HGNC]
  • IGLV11-55:immunoglobulin lambda variable 11-55 (non-functional) [Gene - HGNC]
  • IGLV4-60:immunoglobulin lambda variable 4-60 [Gene - HGNC]
  • IGLV4-69:immunoglobulin lambda variable 4-69 [Gene - HGNC]
  • IGLV5-37:immunoglobulin lambda variable 5-37 [Gene - HGNC]
  • IGLV5-45:immunoglobulin lambda variable 5-45 [Gene - HGNC]
  • IGLV5-48:immunoglobulin lambda variable 5-48 (non-functional) [Gene - HGNC]
  • IGLV5-52:immunoglobulin lambda variable 5-52 [Gene - HGNC]
  • IGLV6-57:immunoglobulin lambda variable 6-57 [Gene - HGNC]
  • IGLV7-43:immunoglobulin lambda variable 7-43 [Gene - HGNC]
  • IGLV7-46:immunoglobulin lambda variable 7-46 [Gene - HGNC]
  • IGLV8-61:immunoglobulin lambda variable 8-61 [Gene - HGNC]
  • IGLV9-49:immunoglobulin lambda variable 9-49 [Gene - HGNC]
  • MIR130B:microRNA 130b [Gene - OMIM - HGNC]
  • MIR301B:microRNA 301b [Gene - 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 - 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]
  • LL22NC03-63E9.3:uncharacterized LOC648691 [Gene]
  • 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:
Preferred name:
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1
HGVS:
  • NC_000022.11:g.(?_21454661)_(22562663_?)del
  • NC_000022.10:g.(?_21808950)_(22905068_?)del
  • NC_000022.9:g.(?_20138950)_(21235068_?)del
Links:
dbVar: nssv582259; dbVar: nssv582352; dbVar: nssv584526; dbVar: nsv531772
Observations:
3

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
SCV000175664ISCA site 1

See additional submitters

no assertion criteria providedLikely pathogenic
(Jan 5, 2011)
de novoclinical testing

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

SCV000196341ISCA site 2

See additional submitters

no assertion criteria providedPathogenic
(Sep 16, 2011)
de novoclinical testing

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

SCV000196342ISCA site 8

See additional submitters

no assertion criteria providedPathogenic
(Oct 20, 2010)
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.

SCV000175664

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/].

SCV000175664

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

SCV000196341

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

SCV000196342

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes2not providednot providednot providednot providedclinical testing
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, SCV000175664.4

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

From ISCA site 2, SCV000196341.2

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

From ISCA site 8, SCV000196342.2

#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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