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GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3 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:
RCV000052942.4

Allele description

GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3

Genes:
  • HAAO:3-hydroxyanthranilate 3,4-dioxygenase [Gene - OMIM - HGNC]
  • ABCG5:ATP binding cassette subfamily G member 5 [Gene - OMIM - HGNC]
  • ABCG8:ATP binding cassette subfamily G member 8 [Gene - OMIM - HGNC]
  • C1GALT1C1L:C1GALT1-specific chaperone 1 like [Gene - HGNC]
  • CEBPZ:CCAAT/enhancer binding protein zeta [Gene - OMIM - HGNC]
  • CDC42EP3:CDC42 effector protein 3 [Gene - OMIM - HGNC]
  • CEBPZOS:CEBPZ opposite strand [Gene - HGNC]
  • CYP1B1-AS1:CYP1B1 antisense RNA 1 [Gene - HGNC]
  • DHX57:DExH-box helicase 57 [Gene - HGNC]
  • GPATCH11:G-patch domain containing 11 [Gene - HGNC]
  • HEATR5B:HEAT repeat containing 5B [Gene - HGNC]
  • MORN2:MORN repeat containing 2 [Gene - HGNC]
  • NDUFAF7:NADH:ubiquinone oxidoreductase complex assembly factor 7 [Gene - OMIM - HGNC]
  • RASGRP3:RAS guanyl releasing protein 3 [Gene - OMIM - HGNC]
  • RMDN2-AS1:RMDN2 antisense RNA 1 [Gene - HGNC]
  • ARHGEF33:Rho guanine nucleotide exchange factor 33 [Gene - HGNC]
  • SIX2:SIX homeobox 2 [Gene - OMIM - HGNC]
  • SIX3:SIX homeobox 3 [Gene - OMIM - HGNC]
  • SIX3-AS1:SIX3 antisense RNA 1 [Gene - HGNC]
  • SLC8A1-AS1:SLC8A1 antisense RNA 1 [Gene - HGNC]
  • SOS1:SOS Ras/Rac guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
  • SOS1-IT1:SOS1 intronic transcript 1 [Gene - HGNC]
  • THADA:THADA, armadillo repeat containing [Gene - OMIM - HGNC]
  • THUMPD2:THUMP domain containing 2 [Gene - OMIM - HGNC]
  • ZFP36L2:ZFP36 ring finger protein like 2 [Gene - OMIM - HGNC]
  • ATL2:atlastin GTPase 2 [Gene - OMIM - HGNC]
  • CAMKMT:calmodulin-lysine N-methyltransferase [Gene - OMIM - HGNC]
  • C2orf91:chromosome 2 open reading frame 91 [Gene - HGNC]
  • CDKL4:cyclin dependent kinase like 4 [Gene - HGNC]
  • CRIM1:cysteine rich transmembrane BMP regulator 1 [Gene - OMIM - HGNC]
  • CYP1B1:cytochrome P450 family 1 subfamily B member 1 [Gene - OMIM - HGNC]
  • COX7A2L:cytochrome c oxidase subunit 7A2 like [Gene - OMIM - HGNC]
  • DYNC2LI1:dynein cytoplasmic 2 light intermediate chain 1 [Gene - OMIM - HGNC]
  • EML4:echinoderm microtubule associated protein like 4 [Gene - OMIM - HGNC]
  • EIF2AK2:eukaryotic translation initiation factor 2 alpha kinase 2 [Gene - OMIM - HGNC]
  • FAM98A:family with sequence similarity 98 member A [Gene - HGNC]
  • FEZ2:fasciculation and elongation protein zeta 2 [Gene - OMIM - HGNC]
  • GALM:galactose mutarotase [Gene - OMIM - HGNC]
  • GEMIN6:gem nuclear organelle associated protein 6 [Gene - OMIM - HGNC]
  • QPCT:glutaminyl-peptide cyclotransferase [Gene - OMIM - HGNC]
  • HNRNPLL:heterogeneous nuclear ribonucleoprotein L like [Gene - OMIM - HGNC]
  • LTBP1:latent transforming growth factor beta binding protein 1 [Gene - OMIM - HGNC]
  • LRPPRC:leucine rich pentatricopeptide repeat containing [Gene - OMIM - HGNC]
  • LINC01126:long intergenic non-protein coding RNA 1126 [Gene - HGNC]
  • LINC01317:long intergenic non-protein coding RNA 1317 [Gene - HGNC]
  • LINC01318:long intergenic non-protein coding RNA 1318 [Gene - HGNC]
  • LINC01320:long intergenic non-protein coding RNA 1320 [Gene - HGNC]
  • LINC01794:long intergenic non-protein coding RNA 1794 [Gene - HGNC]
  • LINC01819:long intergenic non-protein coding RNA 1819 [Gene - HGNC]
  • LINC01833:long intergenic non-protein coding RNA 1833 [Gene - HGNC]
  • LINC01883:long intergenic non-protein coding RNA 1883 [Gene - HGNC]
  • LINC01913:long intergenic non-protein coding RNA 1913 [Gene - HGNC]
  • LINC01914:long intergenic non-protein coding RNA 1914 [Gene - HGNC]
  • LINC00211:long intergenic non-protein coding RNA 211 [Gene - HGNC]
  • LINC02580:long intergenic non-protein coding RNA 2580 [Gene - HGNC]
  • LINC00486:long intergenic non-protein coding RNA 486 [Gene - HGNC]
  • MTA3:metastasis associated 1 family member 3 [Gene - OMIM - HGNC]
  • MIR4430:microRNA 4430 [Gene - HGNC]
  • MIR548AD:microRNA 548ad [Gene - HGNC]
  • MAP4K3:mitogen-activated protein kinase kinase kinase kinase 3 [Gene - OMIM - HGNC]
  • OXER1:oxoeicosanoid receptor 1 [Gene - HGNC]
  • PLEKHH2:pleckstrin homology, MyTH4 and FERM domain containing H2 [Gene - OMIM - HGNC]
  • KCNG3:potassium voltage-gated channel modifier subfamily G member 3 [Gene - OMIM - HGNC]
  • PREPL:prolyl endopeptidase-like [Gene - OMIM - HGNC]
  • PRKD3:protein kinase D3 [Gene - OMIM - HGNC]
  • PKDCC:protein kinase domain containing, cytoplasmic [Gene - OMIM - HGNC]
  • PPM1B:protein phosphatase, Mg2+/Mn2+ dependent 1B [Gene - OMIM - HGNC]
  • RMDN2:regulator of microtubule dynamics 2 [Gene - OMIM - HGNC]
  • SRSF7:serine and arginine rich splicing factor 7 [Gene - OMIM - HGNC]
  • SLC3A1:solute carrier family 3 member 1 [Gene - OMIM - HGNC]
  • SLC8A1:solute carrier family 8 member A1 [Gene - OMIM - HGNC]
  • STRN:striatin [Gene - OMIM - HGNC]
  • SULT6B1:sulfotransferase family 6B member 1 [Gene - OMIM - HGNC]
  • TRI-TAT2-1:transfer RNA-Ile (TAT) 2-1 [Gene - HGNC]
  • TMEM178A:transmembrane protein 178A [Gene - HGNC]
  • LOC100271832:uncharacterized LOC100271832 [Gene]
  • LOC100288911:uncharacterized LOC100288911 [Gene]
  • LOC101929596:uncharacterized LOC101929596 [Gene]
  • LOC102723824:uncharacterized LOC102723824 [Gene]
  • LOC105374454:uncharacterized LOC105374454 [Gene]
  • LOC375196:uncharacterized LOC375196 [Gene]
  • LOC728730:uncharacterized LOC728730 [Gene]
  • VIT:vitrin [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2p22.3-21
Genomic location:
Preferred name:
GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3
HGVS:
  • NC_000002.12:g.(?_32849247)_(45016061_?)dup
  • NC_000002.10:g.(?_32927818)_(45096704_?)dup
  • NC_000002.11:g.(?_33074314)_(45243200_?)dup
Links:
dbVar: nssv578822; dbVar: nsv531655
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
SCV000080296ISCA site 1

See additional submitters

criteria provided, single submitter
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.

SCV000080296

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 1, SCV000080296.4

#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 5, 2017

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