GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)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:
RCV000053774.4

Allele description [Variation Report for GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)x3]

GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)x3

Genes:
  • ALG2:ALG2 alpha-1,3/1,6-mannosyltransferase [Gene - OMIM - HGNC]
  • ABCA1:ATP binding cassette subfamily A member 1 [Gene - OMIM - HGNC]
  • LOC116186943:CRISPRi-validated cis-regulatory element chr9.1594 [Gene]
  • LOC116216096:CRISPRi-validated cis-regulatory element chr9.1708 [Gene]
  • LOC116216097:CRISPRi-validated cis-regulatory element chr9.1735 [Gene]
  • ERCC6L2:ERCC excision repair 6 like 2 [Gene - OMIM - HGNC]
  • FANCC:FA complementation group C [Gene - OMIM - HGNC]
  • LOC286367:FP944 [Gene]
  • LOC111413036:GATA motif-containing MPRA enhancer 175 [Gene]
  • LOC111429628:GATA motif-containing MPRA enhancer 228 [Gene]
  • LOC111500312:GATA motif-containing MPRA enhancer 268 [Gene]
  • HSD17B3-AS1:HSD17B3 antisense RNA 1 [Gene - HGNC]
  • MSANTD3-TMEFF1:MSANTD3-TMEFF1 readthrough [Gene - HGNC]
  • MSANTD3:Myb/SANT DNA binding domain containing 3 [Gene - HGNC]
  • NANS:N-acetylneuraminate synthase [Gene - OMIM - HGNC]
  • LOC111556107:NFE2L2 motif-containing MPRA enhancer 257 [Gene]
  • NUTM2F:NUT family member 2F [Gene - HGNC]
  • NUTM2G:NUT family member 2G [Gene - HGNC]
  • SEC61B:SEC61 translocon subunit beta [Gene - OMIM - HGNC]
  • SMC2-AS1:SMC2 antisense RNA 1 (head to head) [Gene - HGNC]
  • STX17-AS1:STX17 antisense RNA 1 [Gene - HGNC]
  • SUGT1P4-STRA6LP-CCDC180:SUGT1P4-STRA6LP-CCDC180 readthrough [Gene - HGNC]
  • LOC113839498:Sharpr-MPRA regulatory region 10276 [Gene]
  • LOC113839574:Sharpr-MPRA regulatory region 14573 [Gene]
  • LOC114022698:Sharpr-MPRA regulatory region 1857 [Gene]
  • LOC113839497:Sharpr-MPRA regulatory region 4026 [Gene]
  • LOC113839496:Sharpr-MPRA regulatory region 5777 [Gene]
  • LOC113839495:Sharpr-MPRA regulatory region 9871 [Gene]
  • TAL2:TAL bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • TBC1D2:TBC1 domain family member 2 [Gene - OMIM - HGNC]
  • TMEM246-AS1:TMEM246 antisense RNA 1 [Gene - HGNC]
  • LOC110121043:VISTA enhancer hs1258 [Gene]
  • LOC110121093:VISTA enhancer hs1417 [Gene]
  • LOC114827821:VISTA enhancer hs1595 [Gene]
  • LOC110121153:VISTA enhancer hs1596 [Gene]
  • LOC110121154:VISTA enhancers hs1597 and hs1717 [Gene]
  • XPA:XPA, DNA damage recognition and repair factor [Gene - OMIM - HGNC]
  • ANP32B:acidic nuclear phosphoprotein 32 family member B [Gene - HGNC]
  • ALDOB:aldolase, fructose-bisphosphate B [Gene - OMIM - HGNC]
  • AOPEP:aminopeptidase O (putative) [Gene - HGNC]
  • ANKS6:ankyrin repeat and sterile alpha motif domain containing 6 [Gene - OMIM - HGNC]
  • BAAT:bile acid-CoA:amino acid N-acyltransferase [Gene - OMIM - HGNC]
  • CT70:cancer/testis associated transcript 70 [Gene - HGNC]
  • CTSV:cathepsin V [Gene - OMIM - HGNC]
  • CAVIN4:caveolae associated protein 4 [Gene - OMIM - HGNC]
  • CDC14B:cell division cycle 14B [Gene - OMIM - HGNC]
  • CCDC180:coiled-coil domain containing 180 [Gene - HGNC]
  • COL15A1:collagen type XV alpha 1 chain [Gene - OMIM - HGNC]
  • CORO2A:coronin 2A [Gene - OMIM - HGNC]
  • CYLC2:cylicin 2 [Gene - OMIM - HGNC]
  • ERP44:endoplasmic reticulum protein 44 [Gene - OMIM - HGNC]
  • FSD1L:fibronectin type III and SPRY domain containing 1 like [Gene - OMIM - HGNC]
  • FOXE1:forkhead box E1 [Gene - OMIM - HGNC]
  • FBP1:fructose-bisphosphatase 1 [Gene - OMIM - HGNC]
  • FBP2:fructose-bisphosphatase 2 [Gene - OMIM - HGNC]
  • FKTN:fukutin [Gene - OMIM - HGNC]
  • GABBR2:gamma-aminobutyric acid type B receptor subunit 2 [Gene - OMIM - HGNC]
  • GRIN3A:glutamate ionotropic receptor NMDA type subunit 3A [Gene - OMIM - HGNC]
  • HEMGN:hemogen [Gene - OMIM - HGNC]
  • HABP4:hyaluronan binding protein 4 [Gene - OMIM - HGNC]
  • HSD17B3:hydroxysteroid 17-beta dehydrogenase 3 [Gene - OMIM - HGNC]
  • INVS:inversin [Gene - OMIM - HGNC]
  • LINC01492:long intergenic non-protein coding RNA 1492 [Gene - HGNC]
  • LINC01505:long intergenic non-protein coding RNA 1505 [Gene - HGNC]
  • LINC02603:long intergenic non-protein coding RNA 2603 [Gene - HGNC]
  • LINC00476:long intergenic non-protein coding RNA 476 [Gene - HGNC]
  • LINC00587:long intergenic non-protein coding RNA 587 [Gene - HGNC]
  • LINC00092:long intergenic non-protein coding RNA 92 [Gene - HGNC]
  • MFSD14B:major facilitator superfamily domain containing 14B [Gene - HGNC]
  • MFSD14C:major facilitator superfamily domain containing 14C [Gene - HGNC]
  • MIR1302-8:microRNA 1302-8 [Gene - HGNC]
  • MIR2278:microRNA 2278 [Gene - HGNC]
  • MIR23B:microRNA 23b [Gene - OMIM - HGNC]
  • MIR24-1:microRNA 24-1 [Gene - OMIM - HGNC]
  • MIR27B:microRNA 27b [Gene - OMIM - HGNC]
  • MIR3074:microRNA 3074 [Gene - HGNC]
  • MIR6081:microRNA 6081 [Gene - HGNC]
  • MIR6854:microRNA 6854 [Gene - HGNC]
  • MIR8081:microRNA 8081 [Gene - HGNC]
  • MRPL50:mitochondrial ribosomal protein L50 [Gene - OMIM - HGNC]
  • NIPSNAP3A:nipsnap homolog 3A [Gene - OMIM - HGNC]
  • NIPSNAP3B:nipsnap homolog 3B [Gene - OMIM - HGNC]
  • NAMA:non-protein coding RNA, associated with MAP kinase pathway and growth arrest [Gene - HGNC]
  • NCBP1:nuclear cap binding protein subunit 1 [Gene - OMIM - HGNC]
  • NR4A3:nuclear receptor subfamily 4 group A member 3 [Gene - OMIM - HGNC]
  • OR13C2:olfactory receptor family 13 subfamily C member 2 [Gene - HGNC]
  • OR13C3:olfactory receptor family 13 subfamily C member 3 [Gene - HGNC]
  • OR13C4:olfactory receptor family 13 subfamily C member 4 [Gene - HGNC]
  • OR13C5:olfactory receptor family 13 subfamily C member 5 [Gene - HGNC]
  • OR13C8:olfactory receptor family 13 subfamily C member 8 [Gene - HGNC]
  • OR13C9:olfactory receptor family 13 subfamily C member 9 [Gene - HGNC]
  • OR13D1:olfactory receptor family 13 subfamily D member 1 [Gene - HGNC]
  • OR13F1:olfactory receptor family 13 subfamily F member 1 [Gene - HGNC]
  • PTCSC2:papillary thyroid carcinoma susceptibility candidate 2 [Gene - HGNC]
  • PTCH1:patched 1 [Gene - OMIM - HGNC]
  • PRXL2C:peroxiredoxin like 2C [Gene - HGNC]
  • PLPPR1:phospholipid phosphatase related 1 [Gene - HGNC]
  • GALNT12:polypeptide N-acetylgalactosaminyltransferase 12 [Gene - OMIM - HGNC]
  • PGAP4:post-GPI attachment to proteins GalNAc transferase 4 [Gene - HGNC]
  • PCAT7:prostate cancer associated transcript 7 [Gene - HGNC]
  • PPP3R2:protein phosphatase 3 regulatory subunit B, beta [Gene - OMIM - HGNC]
  • RNF20:ring finger protein 20 [Gene - OMIM - HGNC]
  • SLC35D2:solute carrier family 35 member D2 [Gene - OMIM - HGNC]
  • SLC44A1:solute carrier family 44 member 1 [Gene - OMIM - HGNC]
  • SMC2:structural maintenance of chromosomes 2 [Gene - OMIM - HGNC]
  • STX17:syntaxin 17 [Gene - OMIM - HGNC]
  • TRMO:tRNA methyltransferase O [Gene - HGNC]
  • TEX10:testis expressed 10 [Gene - OMIM - HGNC]
  • TSTD2:thiosulfate sulfurtransferase like domain containing 2 [Gene - HGNC]
  • TGFBR1:transforming growth factor beta receptor 1 [Gene - OMIM - HGNC]
  • TMEM38B:transmembrane protein 38B [Gene - OMIM - HGNC]
  • TMEFF1:transmembrane protein with EGF like and two follistatin like domains 1 [Gene - OMIM - HGNC]
  • TRIM14:tripartite motif containing 14 [Gene - OMIM - HGNC]
  • TMOD1:tropomodulin 1 [Gene - OMIM - HGNC]
  • TDRD7:tudor domain containing 7 [Gene - OMIM - HGNC]
  • LOC100132077:uncharacterized LOC100132077 [Gene]
  • LOC100507346:uncharacterized LOC100507346 [Gene]
  • LOC101928119:uncharacterized LOC101928119 [Gene]
  • LOC101928438:uncharacterized LOC101928438 [Gene]
  • LOC101928523:uncharacterized LOC101928523 [Gene]
  • LOC105376194:uncharacterized LOC105376194 [Gene]
  • LOC158434:uncharacterized LOC158434 [Gene]
  • LOC158435:uncharacterized LOC158435 [Gene]
  • LOC286359:uncharacterized LOC286359 [Gene]
  • ZNF169:zinc finger protein 169 [Gene - OMIM - HGNC]
  • ZNF189:zinc finger protein 189 [Gene - OMIM - HGNC]
  • ZNF367:zinc finger protein 367 [Gene - OMIM - HGNC]
  • ZNF510:zinc finger protein 510 [Gene - HGNC]
  • ZNF782:zinc finger protein 782 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
9q22.32-31.2
Genomic location:
Preferred name:
GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)x3
HGVS:
  • NC_000009.12:g.(?_94184266)_(106730550_?)dup
  • NC_000009.10:g.(?_95986369)_(108532652_?)dup
  • NC_000009.11:g.(?_96946548)_(109492831_?)dup
Links:
dbVar: nssv579134; dbVar: nsv532432
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
SCV000081137ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratoriescriteria provided, single submitter
Pathogenic
(Aug 12, 2011)
not providedclinical testing

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

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, SCV000081137.4

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

Last Updated: Jan 18, 2020

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