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GRCh37/hg19 10q23.1-23.2(chr10:82013260-89166455)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 8, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000511659.3

Allele description [Variation Report for GRCh37/hg19 10q23.1-23.2(chr10:82013260-89166455)x1]

GRCh37/hg19 10q23.1-23.2(chr10:82013260-89166455)x1

Genes:
  • ADIRF-AS1:ADIRF antisense RNA 1 [Gene - HGNC]
  • AGAP11:ArfGAP with GTPase domain, ankyrin repeat and PH domain 11 [Gene - HGNC]
  • DYDC1:DPY30 domain containing 1 [Gene - OMIM - HGNC]
  • DYDC2:DPY30 domain containing 2 [Gene - HGNC]
  • GPR15LG:G protein-coupled receptor 15 ligand [Gene - OMIM - HGNC]
  • LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
  • NUTM2A:NUT family member 2A [Gene - HGNC]
  • SH2D4B:SH2 domain containing 4B [Gene - HGNC]
  • WAPL:WAPL cohesin release factor [Gene - OMIM - HGNC]
  • ADIRF:adipogenesis regulatory factor [Gene - HGNC]
  • BMPR1A:bone morphogenetic protein receptor type 1A [Gene - OMIM - HGNC]
  • CDHR1:cadherin related family member 1 [Gene - OMIM - HGNC]
  • CCSER2:coiled-coil serine rich protein 2 [Gene - OMIM - HGNC]
  • FAM25A:family with sequence similarity 25 member A [Gene - HGNC]
  • GLUD1:glutamate dehydrogenase 1 [Gene - OMIM - HGNC]
  • GRID1:glutamate ionotropic receptor delta type subunit 1 [Gene - OMIM - HGNC]
  • GHITM:growth hormone inducible transmembrane protein [Gene - OMIM - HGNC]
  • LRIT1:leucine rich repeat, Ig-like and transmembrane domains 1 [Gene - OMIM - HGNC]
  • LRIT2:leucine rich repeat, Ig-like and transmembrane domains 2 [Gene - HGNC]
  • LINC01520:long intergenic non-protein coding RNA 1520 [Gene - HGNC]
  • MAT1A:methionine adenosyltransferase 1A [Gene - OMIM - HGNC]
  • MIR346:microRNA 346 [Gene - OMIM - HGNC]
  • MMRN2:multimerin 2 [Gene - OMIM - HGNC]
  • NRG3:neuregulin 3 [Gene - OMIM - HGNC]
  • OPN4:opsin 4 [Gene - OMIM - HGNC]
  • PRXL2A:peroxiredoxin like 2A [Gene - OMIM - HGNC]
  • RGR:retinal G protein coupled receptor [Gene - OMIM - HGNC]
  • SHLD2:shieldin complex subunit 2 [Gene - OMIM - HGNC]
  • SNCG:synuclein gamma [Gene - OMIM - HGNC]
  • TSPAN14:tetraspanin 14 [Gene - HGNC]
  • LOC101929662:uncharacterized LOC101929662 [Gene]
Variant type:
copy number loss
Cytogenetic location:
10q23.1-23.2
Genomic location:
Chr10: 82013260 - 89166455 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 10q23.1-23.2(chr10:82013260-89166455)x1
HGVS:
NC_000010.10:g.(?_82013260)_(89166455_?)del
Links:
dbVar: nssv13643114; dbVar: nsv2771880
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
SCV000584889ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 8, 2014) 		unknownclinical 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

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, SCV000584889.1

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

Last Updated: May 7, 2024