GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: May 27, 2010)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000050315.6

Allele description [Variation Report for GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1]

GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1

Genes:
  • AKAP2:A-kinase anchoring protein 2 [Gene - OMIM - HGNC]
  • ALG2:ALG2, alpha-1,3/1,6-mannosyltransferase [Gene - OMIM - HGNC]
  • AKNA:AT-hook transcription factor [Gene - OMIM - HGNC]
  • ABCA1:ATP binding cassette subfamily A member 1 [Gene - OMIM - HGNC]
  • ATP6V1G1:ATPase H+ transporting V1 subunit G1 [Gene - OMIM - HGNC]
  • BSPRY:B-box and SPRY domain containing [Gene - HGNC]
  • POLE3:DNA polymerase epsilon 3, accessory subunit [Gene - OMIM - HGNC]
  • DNAJC25-GNG10:DNAJC25-GNG10 readthrough [Gene - HGNC]
  • DNAJC25:DnaJ heat shock protein family (Hsp40) member C25 [Gene - HGNC]
  • FKBP15:FK506 binding protein 15 [Gene - OMIM - HGNC]
  • LOC286367:FP944 [Gene]
  • GNG10:G protein subunit gamma 10 [Gene - OMIM - HGNC]
  • INIP:INTS3 and NABP interacting protein [Gene - OMIM - HGNC]
  • KIAA0368:KIAA0368 [Gene - OMIM - HGNC]
  • KIAA1958:KIAA1958 [Gene - OMIM - HGNC]
  • KLF4:Kruppel like factor 4 [Gene - OMIM - HGNC]
  • MSANTD3-TMEFF1:MSANTD3-TMEFF1 readthrough [Gene - HGNC]
  • MSANTD3:Myb/SANT DNA binding domain containing 3 [Gene - HGNC]
  • PALM2-AKAP2:PALM2-AKAP2 readthrough [Gene - HGNC]
  • RAD23B:RAD23 homolog B, nucleotide excision repair protein [Gene - OMIM - HGNC]
  • SMC2-AS1:SMC2 antisense RNA 1 (head to head) [Gene - HGNC]
  • STX17-AS1:STX17 antisense RNA 1 [Gene - HGNC]
  • SEC61B:Sec61 translocon beta subunit [Gene - OMIM - HGNC]
  • TAL2:TAL bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • TMEM246-AS1:TMEM246 antisense RNA 1 [Gene - HGNC]
  • TNFSF15:TNF superfamily member 15 [Gene - OMIM - HGNC]
  • TNFSF8:TNF superfamily member 8 [Gene - OMIM - HGNC]
  • UGCG:UDP-glucose ceramide glucosyltransferase [Gene - OMIM - HGNC]
  • WDR31:WD repeat domain 31 [Gene - HGNC]
  • ZFP37:ZFP37 zinc finger protein [Gene - OMIM - HGNC]
  • ACTL7A:actin like 7A [Gene - OMIM - HGNC]
  • ACTL7B:actin like 7B [Gene - OMIM - HGNC]
  • ALDOB:aldolase, fructose-bisphosphate B [Gene - OMIM - HGNC]
  • AMBP:alpha-1-microglobulin/bikunin precursor [Gene - OMIM - HGNC]
  • ALAD:aminolevulinate dehydratase [Gene - OMIM - HGNC]
  • BAAT:bile acid-CoA:amino acid N-acyltransferase [Gene - OMIM - HGNC]
  • CTNNAL1:catenin alpha like 1 [Gene - OMIM - HGNC]
  • CAVIN4:caveolae associated protein 4 [Gene - HGNC]
  • CDC26:cell division cycle 26 [Gene - OMIM - HGNC]
  • C9orf147:chromosome 9 open reading frame 147 [Gene - HGNC]
  • C9orf152:chromosome 9 open reading frame 152 [Gene - HGNC]
  • C9orf43:chromosome 9 open reading frame 43 [Gene - HGNC]
  • C9orf84:chromosome 9 open reading frame 84 [Gene - HGNC]
  • COL27A1:collagen type XXVII alpha 1 chain [Gene - OMIM - HGNC]
  • CYLC2:cylicin 2 [Gene - OMIM - HGNC]
  • ERP44:endoplasmic reticulum protein 44 [Gene - OMIM - HGNC]
  • EPB41L4B:erythrocyte membrane protein band 4.1 like 4B [Gene - OMIM - HGNC]
  • FAM206A:family with sequence similarity 206 member A [Gene - HGNC]
  • FAM225A:family with sequence similarity 225 member A (non-protein coding) [Gene - HGNC]
  • FAM225B:family with sequence similarity 225 member B (non-protein coding) [Gene - HGNC]
  • FRRS1L:ferric chelate reductase 1 like [Gene - OMIM - HGNC]
  • FSD1L:fibronectin type III and SPRY domain containing 1 like [Gene - OMIM - HGNC]
  • FKTN:fukutin [Gene - OMIM - HGNC]
  • GRIN3A:glutamate ionotropic receptor NMDA type subunit 3A [Gene - OMIM - HGNC]
  • HDHD3:haloacid dehalogenase like hydrolase domain containing 3 [Gene - HGNC]
  • HSDL2:hydroxysteroid dehydrogenase like 2 [Gene - HGNC]
  • IKBKAP:inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein [Gene - OMIM - HGNC]
  • INVS:inversin [Gene - OMIM - HGNC]
  • KIF12:kinesin family member 12 [Gene - OMIM - HGNC]
  • LRRC37A5P:leucine rich repeat containing 37 member A5, pseudogene [Gene - HGNC]
  • LINC01492:long intergenic non-protein coding RNA 1492 [Gene - HGNC]
  • LINC01505:long intergenic non-protein coding RNA 1505 [Gene - HGNC]
  • LINC01509:long intergenic non-protein coding RNA 1509 [Gene - HGNC]
  • LINC00587:long intergenic non-protein coding RNA 587 [Gene - HGNC]
  • LPAR1:lysophosphatidic acid receptor 1 [Gene - OMIM - HGNC]
  • MIR32:microRNA 32 [Gene - OMIM - HGNC]
  • MIR3927:microRNA 3927 [Gene - HGNC]
  • MIR455:microRNA 455 [Gene - HGNC]
  • MIR4668:microRNA 4668 [Gene - HGNC]
  • MIR7702:microRNA 7702 [Gene - HGNC]
  • MIR8081:microRNA 8081 [Gene - HGNC]
  • MRPL50:mitochondrial ribosomal protein L50 [Gene - OMIM - HGNC]
  • MUSK:muscle associated receptor tyrosine kinase [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]
  • 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]
  • OR2K2:olfactory receptor family 2 subfamily K member 2 [Gene - HGNC]
  • ORM1:orosomucoid 1 [Gene - OMIM - HGNC]
  • ORM2:orosomucoid 2 [Gene - OMIM - HGNC]
  • PALM2:paralemmin 2 [Gene - HGNC]
  • PLPPR1:phospholipid phosphatase related 1 [Gene - HGNC]
  • PTBP3:polypyrimidine tract binding protein 3 [Gene - OMIM - HGNC]
  • PRPF4:pre-mRNA processing factor 4 [Gene - OMIM - HGNC]
  • PTGR1:prostaglandin reductase 1 [Gene - OMIM - HGNC]
  • PPP3R2:protein phosphatase 3 regulatory subunit B, beta [Gene - OMIM - HGNC]
  • PTPN3:protein tyrosine phosphatase, non-receptor type 3 [Gene - OMIM - HGNC]
  • LOC107987013:putative uncharacterized protein DDB_G0287265 [Gene]
  • RGS3:regulator of G-protein signaling 3 [Gene - OMIM - HGNC]
  • RNF183:ring finger protein 183 [Gene - HGNC]
  • RNF20:ring finger protein 20 [Gene - OMIM - HGNC]
  • SLC31A1:solute carrier family 31 member 1 [Gene - OMIM - HGNC]
  • SLC31A2:solute carrier family 31 member 2 [Gene - OMIM - HGNC]
  • SLC44A1:solute carrier family 44 member 1 [Gene - OMIM - HGNC]
  • SLC46A2:solute carrier family 46 member 2 [Gene - OMIM - HGNC]
  • SNX30:sorting nexin family member 30 [Gene - HGNC]
  • SMC2:structural maintenance of chromosomes 2 [Gene - OMIM - HGNC]
  • SUSD1:sushi domain containing 1 [Gene - HGNC]
  • SVEP1:sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 [Gene - OMIM - HGNC]
  • STX17:syntaxin 17 [Gene - OMIM - HGNC]
  • TEX10:testis expressed 10 [Gene - OMIM - HGNC]
  • TEX48:testis expressed 48 [Gene - HGNC]
  • TXNDC8:thioredoxin domain containing 8 [Gene - HGNC]
  • TXN:thioredoxin [Gene - OMIM - HGNC]
  • TRR-TCG6-1:transfer RNA-Arg (TCG) 6-1 [Gene - HGNC]
  • TGFBR1:transforming growth factor beta receptor 1 [Gene - OMIM - HGNC]
  • TMEM245:transmembrane protein 245 [Gene - HGNC]
  • TMEM246:transmembrane protein 246 [Gene - HGNC]
  • TMEM268:transmembrane protein 268 [Gene - HGNC]
  • TMEM38B:transmembrane protein 38B [Gene - OMIM - HGNC]
  • TMEFF1:transmembrane protein with EGF like and two follistatin like domains 1 [Gene - OMIM - HGNC]
  • LOC101928438:uncharacterized LOC101928438 [Gene]
  • LOC101928523:uncharacterized LOC101928523 [Gene]
  • LOC105376194:uncharacterized LOC105376194 [Gene]
  • LOC340512:uncharacterized LOC340512 [Gene]
  • WHRN:whirlin [Gene - OMIM - HGNC]
  • ZNF189:zinc finger protein 189 [Gene - OMIM - HGNC]
  • ZNF462:zinc finger protein 462 [Gene - OMIM - HGNC]
  • ZNF483:zinc finger protein 483 [Gene - HGNC]
  • ZNF618:zinc finger protein 618 [Gene - OMIM - HGNC]
  • ZNF883:zinc finger protein 883 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9q22.33-33.1
Genomic location:
Preferred name:
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1
HGVS:
  • NC_000009.12:g.(?_99138048)_(115011033_?)del
  • NC_000009.10:g.(?_100940151)_(116813133_?)del
  • NC_000009.11:g.(?_101900330)_(117773312_?)del
Links:
dbVar: nssv3396420; dbVar: nssv575418; dbVar: nsv491689
Observations:
2

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
SCV000173050ISCA site 4

See additional submitters

no assertion criteria providedPathogenic
(May 27, 2010)
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, with clinical assertions as classified by the original submitter.

SCV000173050

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 4, SCV000173050.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided
2not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Apr 5, 2017