GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 AND See cases

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

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000051098.5

Allele description [Variation Report for GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1]

GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1

Genes:
  • ALG12:ALG12, alpha-1,6-mannosyltransferase [Gene - OMIM - HGNC]
  • CHKB-AS1:CHKB antisense RNA 1 (head to head) [Gene - HGNC]
  • CHKB-CPT1B:CHKB-CPT1B readthrough (NMD candidate) [Gene - HGNC]
  • DENND6B:DENN domain containing 6B [Gene - HGNC]
  • GTSE1:G2 and S-phase expressed 1 [Gene - OMIM - HGNC]
  • GRAMD4:GRAM domain containing 4 [Gene - OMIM - HGNC]
  • GTSE1-AS1:GTSE1 antisense RNA 1 (head to head) [Gene - HGNC]
  • MIRLET7BHG:MIRLET7B host gene [Gene - HGNC]
  • MOV10L1:Mov10 RISC complex RNA helicase like 1 [Gene - OMIM - HGNC]
  • PIM3:Pim-3 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
  • SCO2:SCO2 cytochrome c oxidase assembly protein [Gene - OMIM - HGNC]
  • SBF1:SET binding factor 1 [Gene - OMIM - HGNC]
  • SHANK3:SH3 and multiple ankyrin repeat domains 3 [Gene - OMIM - HGNC]
  • TBC1D22A:TBC1 domain family member 22A [Gene - OMIM - HGNC]
  • TBC1D22A-AS1:TBC1D22A antisense RNA 1 [Gene - HGNC]
  • TRABD:TraB domain containing [Gene - HGNC]
  • ACR:acrosin [Gene - OMIM - HGNC]
  • ADM2:adrenomedullin 2 [Gene - OMIM - HGNC]
  • ARSA:arylsulfatase A [Gene - OMIM - HGNC]
  • BRD1:bromodomain containing 1 [Gene - OMIM - HGNC]
  • CELSR1:cadherin EGF LAG seven-pass G-type receptor 1 [Gene - OMIM - HGNC]
  • CPT1B:carnitine palmitoyltransferase 1B [Gene - OMIM - HGNC]
  • CERK:ceramide kinase [Gene - OMIM - HGNC]
  • CHKB:choline kinase beta [Gene - OMIM - HGNC]
  • C22orf34:chromosome 22 open reading frame 34 [Gene - HGNC]
  • CDPF1:cysteine rich DPF motif domain containing 1 [Gene - HGNC]
  • CRELD2:cysteine rich with EGF like domains 2 [Gene - OMIM - HGNC]
  • FAM19A5:family with sequence similarity 19 member A5, C-C motif chemokine like [Gene - HGNC]
  • HDAC10:histone deacetylase 10 [Gene - OMIM - HGNC]
  • IL17REL:interleukin 17 receptor E-like [Gene - OMIM - HGNC]
  • KLHDC7B:kelch domain containing 7B [Gene - HGNC]
  • LMF2:lipase maturation factor 2 [Gene - HGNC]
  • LINC01310:long intergenic non-protein coding RNA 1310 [Gene - HGNC]
  • LINC00898:long intergenic non-protein coding RNA 898 [Gene - HGNC]
  • MLC1:megalencephalic leukoencephalopathy with subcortical cysts 1 [Gene - OMIM - HGNC]
  • MIR3201:microRNA 3201 [Gene - HGNC]
  • MIR3619:microRNA 3619 [Gene - HGNC]
  • MIR3667:microRNA 3667 [Gene - HGNC]
  • MIR4535:microRNA 4535 [Gene - HGNC]
  • MIR4763:microRNA 4763 [Gene - HGNC]
  • MIR6821:microRNA 6821 [Gene - HGNC]
  • MIRLET7A3:microRNA let-7a-3 [Gene - OMIM - HGNC]
  • MIRLET7B:microRNA let-7b [Gene - OMIM - HGNC]
  • MAPK11:mitogen-activated protein kinase 11 [Gene - OMIM - HGNC]
  • MAPK12:mitogen-activated protein kinase 12 [Gene - OMIM - HGNC]
  • MAPK8IP2:mitogen-activated protein kinase 8 interacting protein 2 [Gene - OMIM - HGNC]
  • MIOX:myo-inositol oxygenase [Gene - OMIM - HGNC]
  • NCAPH2:non-SMC condensin II complex subunit H2 [Gene - OMIM - HGNC]
  • ODF3B:outer dense fiber of sperm tails 3B [Gene - HGNC]
  • PANX2:pannexin 2 [Gene - OMIM - HGNC]
  • PPARA:peroxisome proliferator activated receptor alpha [Gene - OMIM - HGNC]
  • PLXNB2:plexin B2 [Gene - OMIM - HGNC]
  • PKDREJ:polycystin (PKD) family receptor for egg jelly [Gene - OMIM - HGNC]
  • PPP6R2:protein phosphatase 6 regulatory subunit 2 [Gene - OMIM - HGNC]
  • SELO:selenoprotein O [Gene - OMIM]
  • SYCE3:synaptonemal complex central element protein 3 [Gene - OMIM - HGNC]
  • TRMU:tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase [Gene - OMIM - HGNC]
  • TTC38:tetratricopeptide repeat domain 38 [Gene - HGNC]
  • TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]
  • TUBGCP6:tubulin gamma complex associated protein 6 [Gene - OMIM - HGNC]
  • TTLL8:tubulin tyrosine ligase like 8 [Gene - HGNC]
  • LL22NC03-75H12.2:uncharacterized LOC101927722 [Gene]
  • LOC105373100:uncharacterized LOC105373100 [Gene]
  • LOC284930:uncharacterized LOC284930 [Gene]
  • LOC284933:uncharacterized LOC284933 [Gene]
  • LOC90834:uncharacterized protein BC001742 [Gene]
  • ZBED4:zinc finger BED-type containing 4 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
22q13.31-13.33
Genomic location:
Preferred name:
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1
HGVS:
  • NC_000022.11:g.(?_46065705)_(50739836_?)del
  • NC_000022.10:g.(?_46461585)_(51178264_?)del
  • NC_000022.9:g.(?_44840249)_(49525130_?)del
Links:
dbVar: nssv577866; dbVar: nsv529646
Observations:
1

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
SCV000078438ISCA site 4

See additional submitters

criteria provided, single submitter
(Submitter's publication)
Pathogenic
(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.

SCV000078438

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 ISCA site 4, SCV000078438.5

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

Last Updated: Jun 7, 2016