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GRCh38/hg38 22q13.33(chr22:50620720-50745568)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000051444.4

Allele description [Variation Report for GRCh38/hg38 22q13.33(chr22:50620720-50745568)x1]

GRCh38/hg38 22q13.33(chr22:50620720-50745568)x1

Genes:
  • LOC130067886:ATAC-STARR-seq lymphoblastoid active region 19332 [Gene]
  • LOC130067888:ATAC-STARR-seq lymphoblastoid active region 19333 [Gene]
  • LOC130067887:ATAC-STARR-seq lymphoblastoid silent region 14004 [Gene]
  • LOC126863187:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:51094338-51095537 [Gene]
  • LOC126863188:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:51142004-51143203 [Gene]
  • SHANK3:SH3 and multiple ankyrin repeat domains 3 [Gene - OMIM - HGNC]
  • LOC121627956:Sharpr-MPRA regulatory region 5053 [Gene]
  • ACR:acrosin [Gene - OMIM - HGNC]
  • ARSA:arylsulfatase A [Gene - OMIM - HGNC]
  • LOC105373100:uncharacterized LOC105373100 [Gene]
Variant type:
copy number loss
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
GRCh38/hg38 22q13.33(chr22:50620720-50745568)x1
HGVS:
  • NC_000022.11:g.(?_50620720)_(50745568_?)del
  • NC_000022.10:g.(?_51059148)_(51183996_?)del
  • NC_000022.9:g.(?_49406014)_(49530862_?)del
Links:
dbVar: nssv577876; dbVar: nsv529966
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000078792GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical 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

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 GeneDx, SCV000078792.4

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

Last Updated: Oct 14, 2023