GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Mar 26, 2012)

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:
RCV000138253.4

Allele description [Variation Report for GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1]

GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1

Genes:
  • HIBCH:3-hydroxyisobutyryl-CoA hydrolase [Gene - OMIM - HGNC]
  • ASDURF:ASNSD1 upstream reading frame [Gene - HGNC]
  • LOC115945202:CRISPRi-validated cis-regulatory element chr2.5899 [Gene]
  • LOC115947632:CRISPRi-validated cis-regulatory element chr2.5925 [Gene]
  • DNAJC10:DnaJ heat shock protein family (Hsp40) member C10 [Gene - OMIM - HGNC]
  • FSIP2-AS1:FSIP2 antisense RNA 1 [Gene - HGNC]
  • FSIP2-AS2:FSIP2 antisense RNA 2 [Gene - HGNC]
  • GULP1:GULP PTB domain containing engulfment adaptor 1 [Gene - OMIM - HGNC]
  • ITPRID2:ITPR interacting domain containing 2 [Gene - OMIM - HGNC]
  • NCKAP1:NCK associated protein 1 [Gene - OMIM - HGNC]
  • LOC108281145:NEUROD1-SSFA2 intergenic CAGE-defined mid-level expression enhancer [Gene]
  • NAB1:NGFI-A binding protein 1 [Gene - OMIM - HGNC]
  • OSGEPL1:O-sialoglycoprotein endopeptidase like 1 [Gene - HGNC]
  • ORMDL1:ORMDL sphingolipid biosynthesis regulator 1 [Gene - OMIM - HGNC]
  • OSGEPL1-AS1:OSGEPL1 antisense RNA 1 [Gene - HGNC]
  • PMS1:PMS1 homolog 1, mismatch repair system component [Gene - OMIM - HGNC]
  • LOC112806066:Sharpr-MPRA regulatory region 10229 [Gene]
  • LOC112806063:Sharpr-MPRA regulatory region 14191 [Gene]
  • LOC112806068:Sharpr-MPRA regulatory region 2977 [Gene]
  • LOC112806065:Sharpr-MPRA regulatory region 4599 [Gene]
  • LOC112806067:Sharpr-MPRA regulatory region 6341 [Gene]
  • LOC112806064:Sharpr-MPRA regulatory region 8257 [Gene]
  • WDR75:WD repeat domain 75 [Gene - HGNC]
  • ANKAR:ankyrin and armadillo repeat containing [Gene - OMIM - HGNC]
  • ASNSD1:asparagine synthetase domain containing 1 [Gene - HGNC]
  • CALCRL:calcitonin receptor like receptor [Gene - OMIM - HGNC]
  • CAVIN2:caveolae associated protein 2 [Gene - OMIM - HGNC]
  • C2orf88:chromosome 2 open reading frame 88 [Gene - OMIM - HGNC]
  • COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]
  • COL5A2:collagen type V alpha 2 chain [Gene - OMIM - HGNC]
  • DIRC1:disrupted in renal carcinoma 1 [Gene - OMIM - HGNC]
  • DUSP19:dual specificity phosphatase 19 [Gene - OMIM - HGNC]
  • FAM171B:family with sequence similarity 171 member B [Gene - HGNC]
  • FSIP2:fibrous sheath interacting protein 2 [Gene - OMIM - HGNC]
  • FRZB:frizzled related protein [Gene - OMIM - HGNC]
  • GLS:glutaminase [Gene - OMIM - HGNC]
  • LOC729254:hCG2045843 [Gene]
  • INPP1:inositol polyphosphate-1-phosphatase [Gene - OMIM - HGNC]
  • ITGAV:integrin subunit alpha V [Gene - OMIM - HGNC]
  • LINC01090:long intergenic non-protein coding RNA 1090 [Gene - HGNC]
  • LINC01473:long intergenic non-protein coding RNA 1473 [Gene - HGNC]
  • MFSD6:major facilitator superfamily domain containing 6 [Gene - OMIM - HGNC]
  • MIR1245A:microRNA 1245a [Gene - HGNC]
  • MIR1245B:microRNA 1245b [Gene - HGNC]
  • MIR3129:microRNA 3129 [Gene - HGNC]
  • MIR3606:microRNA 3606 [Gene - HGNC]
  • MIR548AE1:microRNA 548ae-1 [Gene - HGNC]
  • MIR561:microRNA 561 [Gene - HGNC]
  • MYO1B:myosin IB [Gene - OMIM - HGNC]
  • MSTN:myostatin [Gene - OMIM - HGNC]
  • NEMP2:nuclear envelope integral membrane protein 2 [Gene - OMIM - HGNC]
  • NABP1:nucleic acid binding protein 1 [Gene - OMIM - HGNC]
  • NUP35:nucleoporin 35 [Gene - OMIM - HGNC]
  • PDE1A:phosphodiesterase 1A [Gene - OMIM - HGNC]
  • PPP1R1C:protein phosphatase 1 regulatory inhibitor subunit 1C [Gene - OMIM - HGNC]
  • STAT1:signal transducer and activator of transcription 1 [Gene - OMIM - HGNC]
  • STAT4:signal transducer and activator of transcription 4 [Gene - OMIM - HGNC]
  • SLC40A1:solute carrier family 40 member 1 [Gene - OMIM - HGNC]
  • TFPI:tissue factor pathway inhibitor [Gene - OMIM - HGNC]
  • TMEFF2:transmembrane protein with EGF like and two follistatin like domains 2 [Gene - OMIM - HGNC]
  • LOC105373782:uncharacterized LOC105373782 [Gene]
  • LOC105373805:uncharacterized LOC105373805 [Gene]
  • LOC105747689:uncharacterized LOC105747689 [Gene]
  • ZC3H15:zinc finger CCCH-type containing 15 [Gene - HGNC]
  • ZSWIM2:zinc finger SWIM-type containing 2 [Gene - HGNC]
  • ZNF804A:zinc finger protein 804A [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q31.3-32.3
Genomic location:
Preferred name:
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1
HGVS:
  • NC_000002.12:g.(?_181758701)_(192015392_?)del
  • NC_000002.10:g.(?_182331673)_(192588363_?)del
  • NC_000002.11:g.(?_182623428)_(192880118_?)del
Links:
dbVar: nssv1494852; dbVar: nsv869463
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
SCV000178527ISCA site 1

See additional submitters

no assertion criteria providedPathogenic
(Mar 26, 2012)
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.

SCV000178527

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000178527

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not 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 1, SCV000178527.4

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

Last Updated: Dec 17, 2019

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