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GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3 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:
RCV000051859.4

Allele description

GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3

Genes:
  • PFKFB2:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 [Gene - OMIM - HGNC]
  • BLACAT1:BLACAT1 overlapping LEMD1 locus [Gene - OMIM - HGNC]
  • CD34:CD34 molecule [Gene - OMIM - HGNC]
  • CD46:CD46 molecule [Gene - OMIM - HGNC]
  • CD55:CD55 molecule (Cromer blood group) [Gene - OMIM - HGNC]
  • LOC115804244:CRISPRi-validated cis-regulatory element chr1.11362 [Gene]
  • DYRK3-AS1:DYRK3 antisense RNA 1 [Gene - HGNC]
  • ELK4:ETS transcription factor ELK4 [Gene - OMIM - HGNC]
  • FCAMR:Fc alpha and mu receptor [Gene - OMIM - HGNC]
  • FCMR:Fc mu receptor [Gene - OMIM - HGNC]
  • G0S2:G0/G1 switch 2 [Gene - OMIM - HGNC]
  • HSD11B1-AS1:HSD11B1 antisense RNA 1 [Gene - HGNC]
  • LEMD1:LEM domain containing 1 [Gene - OMIM - HGNC]
  • LEMD1-AS1:LEMD1 antisense RNA 1 [Gene - HGNC]
  • LEMD1-DT:LEMD1 divergent transcript [Gene - HGNC]
  • MAPKAPK2:MAPK activated protein kinase 2 [Gene - OMIM - HGNC]
  • MFSD4A-AS1:MFSD4A antisense RNA 1 [Gene - HGNC]
  • MIR205HG:MIR205 host gene [Gene - HGNC]
  • MIR29B2CHG:MIR29B2 and MIR29C host gene [Gene - HGNC]
  • NUAK2:NUAK family kinase 2 [Gene - OMIM - HGNC]
  • RAB29:RAB29, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB7B:RAB7B, member RAS oncogene family [Gene - HGNC]
  • RBBP5:RB binding protein 5, histone lysine methyltransferase complex subunit [Gene - OMIM - HGNC]
  • RASSF5:Ras association domain family member 5 [Gene - OMIM - HGNC]
  • SLC26A9-AS1:SLC26A9 and RAB7B antisense RNA 1 [Gene - HGNC]
  • SRGAP2:SLIT-ROBO Rho GTPase activating protein 2 [Gene - OMIM - HGNC]
  • LOC122149359:Sharpr-MPRA regulatory region 10950 [Gene]
  • LOC122149354:Sharpr-MPRA regulatory region 11318 [Gene]
  • LOC112577533:Sharpr-MPRA regulatory region 12474 [Gene]
  • LOC112577534:Sharpr-MPRA regulatory region 12529 [Gene]
  • LOC122149358:Sharpr-MPRA regulatory region 13667 [Gene]
  • LOC113939983:Sharpr-MPRA regulatory region 13960 [Gene]
  • LOC122094914:Sharpr-MPRA regulatory region 15698 duplicate 3 [Gene]
  • LOC120908903:Sharpr-MPRA regulatory region 1786 [Gene]
  • LOC122149352:Sharpr-MPRA regulatory region 1805 [Gene]
  • LOC122149360:Sharpr-MPRA regulatory region 3087 [Gene]
  • LOC122128411:Sharpr-MPRA regulatory region 356 duplicate 3 [Gene]
  • LOC122149353:Sharpr-MPRA regulatory region 3970 [Gene]
  • LOC112577532:Sharpr-MPRA regulatory region 4160 [Gene]
  • LOC122149361:Sharpr-MPRA regulatory region 4428 [Gene]
  • LOC122149487:Sharpr-MPRA regulatory region 4693 [Gene]
  • LOC122149489:Sharpr-MPRA regulatory region 4965 [Gene]
  • LOC122149355:Sharpr-MPRA regulatory region 5187 [Gene]
  • LOC122149357:Sharpr-MPRA regulatory region 5780 [Gene]
  • LOC121725071:Sharpr-MPRA regulatory region 5902 [Gene]
  • LOC122149356:Sharpr-MPRA regulatory region 658 [Gene]
  • LOC121725070:Sharpr-MPRA regulatory region 6944 [Gene]
  • LOC122149490:Sharpr-MPRA regulatory region 8874 [Gene]
  • LOC122149488:Sharpr-MPRA regulatory region 9321 [Gene]
  • LOC122149362:Sharpr-MPRA regulatory region 9788 [Gene]
  • LOC120893176:Sharpr-MPRA regulatory region 9898 [Gene]
  • TMCC2-AS1:TMCC2 antisense RNA 1 [Gene - HGNC]
  • TRAF3IP3:TRAF3 interacting protein 3 [Gene - OMIM - HGNC]
  • UTP25:UTP25 small subunit processor component [Gene - OMIM - HGNC]
  • LOC110120807:VISTA enhancer hs932 [Gene]
  • YOD1:YOD1 deubiquitinase [Gene - OMIM - HGNC]
  • AVPR1B:arginine vasopressin receptor 1B [Gene - OMIM - HGNC]
  • CAMK1G:calcium/calmodulin dependent protein kinase IG [Gene - OMIM - HGNC]
  • CTSE:cathepsin E [Gene - OMIM - HGNC]
  • C1orf116:chromosome 1 open reading frame 116 [Gene - OMIM - HGNC]
  • C1orf147:chromosome 1 open reading frame 147 [Gene - HGNC]
  • C1orf74:chromosome 1 open reading frame 74 [Gene - HGNC]
  • CR1:complement C3b/C4b receptor 1 (Knops blood group) [Gene - OMIM - HGNC]
  • CR1L:complement C3b/C4b receptor 1 like [Gene - OMIM - HGNC]
  • CR2:complement C3d receptor 2 [Gene - OMIM - HGNC]
  • C4BPA:complement component 4 binding protein alpha [Gene - OMIM - HGNC]
  • C4BPB:complement component 4 binding protein beta [Gene - OMIM - HGNC]
  • CNTN2:contactin 2 [Gene - OMIM - HGNC]
  • CDK18:cyclin dependent kinase 18 [Gene - OMIM - HGNC]
  • DSTYK:dual serine/threonine and tyrosine protein kinase [Gene - OMIM - HGNC]
  • DYRK3:dual specificity tyrosine phosphorylation regulated kinase 3 [Gene - OMIM - HGNC]
  • EIF2D:eukaryotic translation initiation factor 2D [Gene - OMIM - HGNC]
  • FAM72A:family with sequence similarity 72 member A [Gene - OMIM - HGNC]
  • HSD11B1:hydroxysteroid 11-beta dehydrogenase 1 [Gene - OMIM - HGNC]
  • IKBKE:inhibitor of nuclear factor kappa B kinase subunit epsilon [Gene - OMIM - HGNC]
  • IRF6:interferon regulatory factor 6 [Gene - OMIM - HGNC]
  • IL10:interleukin 10 [Gene - OMIM - HGNC]
  • IL19:interleukin 19 [Gene - OMIM - HGNC]
  • IL20:interleukin 20 [Gene - OMIM - HGNC]
  • IL24:interleukin 24 [Gene - OMIM - HGNC]
  • KLHDC8A:kelch domain containing 8A [Gene - OMIM - HGNC]
  • LAMB3:laminin subunit beta 3 [Gene - OMIM - HGNC]
  • LINC01696:long intergenic non-protein coding RNA 1696 [Gene - HGNC]
  • LINC01698:long intergenic non-protein coding RNA 1698 [Gene - HGNC]
  • LINC01717:long intergenic non-protein coding RNA 1717 [Gene - HGNC]
  • LINC01774:long intergenic non-protein coding RNA 1774 [Gene - HGNC]
  • LINC02767:long intergenic non-protein coding RNA 2767 [Gene - HGNC]
  • LINC02769:long intergenic non-protein coding RNA 2769 [Gene - HGNC]
  • MFSD4A:major facilitator superfamily domain containing 4A [Gene - HGNC]
  • MIR135B:microRNA 135b [Gene - OMIM - HGNC]
  • MIR205:microRNA 205 [Gene - OMIM - HGNC]
  • MIR29B2:microRNA 29b-2 [Gene - OMIM - HGNC]
  • MIR29C:microRNA 29c [Gene - OMIM - HGNC]
  • MIR4260:microRNA 4260 [Gene - HGNC]
  • MIR6769B:microRNA 6769b [Gene - HGNC]
  • LOC120807609:negCOR silencer S10 [Gene]
  • NFASC:neurofascin [Gene - OMIM - HGNC]
  • NUCKS1:nuclear casein kinase and cyclin dependent kinase substrate 1 [Gene - OMIM - HGNC]
  • PM20D1:peptidase M20 domain containing 1 [Gene - OMIM - HGNC]
  • PLXNA2:plexin A2 [Gene - OMIM - HGNC]
  • PIGR:polymeric immunoglobulin receptor [Gene - OMIM - HGNC]
  • RHEX:regulator of hemoglobinization and erythroid cell expansion [Gene - OMIM - HGNC]
  • SLC26A9:solute carrier family 26 member 9 [Gene - OMIM - HGNC]
  • SLC41A1:solute carrier family 41 member 1 [Gene - OMIM - HGNC]
  • SLC45A3:solute carrier family 45 member 3 [Gene - OMIM - HGNC]
  • SYT14:synaptotagmin 14 [Gene - OMIM - HGNC]
  • TRK-TTT8-1:tRNA-Lys (TTT) 8-1 [Gene - HGNC]
  • TMCC2:transmembrane and coiled-coil domain family 2 [Gene - OMIM - HGNC]
  • TMEM81:transmembrane protein 81 [Gene - HGNC]
  • LOC103021295:uncharacterized LOC103021295 [Gene]
  • LOC148696:uncharacterized LOC148696 [Gene]
  • LOC284581:uncharacterized LOC284581 [Gene]
Variant type:
copy number gain
Cytogenetic location:
1q32.1-32.2
Genomic location:
Preferred name:
GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3
HGVS:
  • NC_000001.11:g.(?_204990129)_(210220258_?)dup
  • NC_000001.10:g.(?_204959257)_(210572305_?)dup
  • NC_000001.9:g.(?_203225880)_(208638928_?)dup
Links:
dbVar: nssv578539; dbVar: nsv530572
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
SCV000079207ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories
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 ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories, SCV000079207.4

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

Last Updated: Feb 20, 2022