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GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 AND See cases

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 21, 2012
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:
RCV000143045.6

Allele description [Variation Report for GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3]

GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3

Genes:
  • LOC130003773:ATAC-STARR-seq lymphoblastoid active region 3327 [Gene]
  • LOC130003774:ATAC-STARR-seq lymphoblastoid active region 3328 [Gene]
  • LOC130003772:ATAC-STARR-seq lymphoblastoid silent region 2353 [Gene]
  • AGAP10:ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 [Gene]
  • AGAP9:ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 [Gene - HGNC]
  • LOC126860929:BRD4-independent group 4 enhancer GRCh37_chr10:48324479-48325678 [Gene]
  • LOC126860928:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:48473688-48474887 [Gene]
  • LOC126860927:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:48600992-48602191 [Gene]
  • GPRIN2:G protein regulated inducer of neurite outgrowth 2 [Gene - OMIM - HGNC]
  • SYT15-AS1:SYT15 antisense RNA 1 [Gene - HGNC]
  • LOC124403949:Sharpr-MPRA regulatory region 8752 [Gene]
  • LOC111818966:Sharpr-MPRA regulatory regions 2784 and 8617 duplicate 1 [Gene]
  • LOC111818967:Sharpr-MPRA regulatory regions 2784 and 8617 duplicate 2 [Gene]
  • ANXA8L1:annexin A8 like 1 [Gene - HGNC]
  • ANXA8:annexin A8 [Gene - OMIM - HGNC]
  • FAM245B:family with sequence similarity 245 member B [Gene - HGNC]
  • FAM25G:family with sequence similarity 25 member G [Gene - HGNC]
  • GDF10:growth differentiation factor 10 [Gene - OMIM - HGNC]
  • GDF2:growth differentiation factor 2 [Gene - OMIM - HGNC]
  • LINC02637:long intergenic non-protein coding RNA 2637 [Gene - HGNC]
  • LINC03029:long intergenic non-protein coding RNA 3029 [Gene - HGNC]
  • LINC00842:long intergenic non-protein coding RNA 842 [Gene - HGNC]
  • NPY4R2:neuropeptide Y receptor Y4-2 [Gene - HGNC]
  • NPY4R:neuropeptide Y receptor Y4 [Gene - OMIM - HGNC]
  • PTPN20:protein tyrosine phosphatase non-receptor type 20 [Gene - OMIM - HGNC]
  • RBP3:retinol binding protein 3 [Gene - OMIM - HGNC]
  • SYT15:synaptotagmin 15 [Gene - OMIM - HGNC]
  • SYT15B:synaptotagmin 15B [Gene - HGNC]
  • LOC102724593:uncharacterized LOC102724593 [Gene]
  • LOC105378289:uncharacterized LOC105378289 [Gene]
  • LOC107001062:uncharacterized LOC107001062 [Gene]
  • ZNF488:zinc finger protein 488 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
10q11.22
Genomic location:
Preferred name:
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3
HGVS:
  • NC_000010.11:g.(?_46375049)_(47987500_?)dup
  • NC_000010.10:g.(?_47006954)_(47929856_?)dup
  • NC_000010.9:g.(?_46371235)_(47449862_?)dup
Links:
dbVar: nssv1604434; dbVar: nsv917094
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
SCV000180185ISCA site 4

See additional submitters

no assertion criteria provided
Benign
(Sep 21, 2012) 		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 4, SCV000180185.3

#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