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GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 27, 2011
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:
RCV000135585.7

Allele description [Variation Report for GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1]

GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1

Genes:
  • ADARB2-AS1:ADARB2 antisense RNA 1 [Gene - HGNC]
  • LOC130003153:ATAC-STARR-seq lymphoblastoid active region 2891 [Gene]
  • LOC130003154:ATAC-STARR-seq lymphoblastoid active region 2892 [Gene]
  • LOC130003160:ATAC-STARR-seq lymphoblastoid active region 2893 [Gene]
  • LOC130003161:ATAC-STARR-seq lymphoblastoid active region 2894 [Gene]
  • LOC130003163:ATAC-STARR-seq lymphoblastoid active region 2897 [Gene]
  • LOC130003165:ATAC-STARR-seq lymphoblastoid active region 2898 [Gene]
  • LOC130003166:ATAC-STARR-seq lymphoblastoid active region 2899 [Gene]
  • LOC130003167:ATAC-STARR-seq lymphoblastoid active region 2901 [Gene]
  • LOC130003168:ATAC-STARR-seq lymphoblastoid active region 2902 [Gene]
  • LOC130003169:ATAC-STARR-seq lymphoblastoid active region 2903 [Gene]
  • LOC130003170:ATAC-STARR-seq lymphoblastoid active region 2904 [Gene]
  • LOC130003155:ATAC-STARR-seq lymphoblastoid silent region 2059 [Gene]
  • LOC130003156:ATAC-STARR-seq lymphoblastoid silent region 2060 [Gene]
  • LOC130003157:ATAC-STARR-seq lymphoblastoid silent region 2061 [Gene]
  • LOC130003158:ATAC-STARR-seq lymphoblastoid silent region 2062 [Gene]
  • LOC130003159:ATAC-STARR-seq lymphoblastoid silent region 2063 [Gene]
  • LOC130003162:ATAC-STARR-seq lymphoblastoid silent region 2066 [Gene]
  • LOC130003164:ATAC-STARR-seq lymphoblastoid silent region 2067 [Gene]
  • LOC126860808:BRD4-independent group 4 enhancer GRCh37_chr10:1088961-1090160 [Gene]
  • LOC126860813:BRD4-independent group 4 enhancer GRCh37_chr10:1501805-1503004 [Gene]
  • LOC126860816:BRD4-independent group 4 enhancer GRCh37_chr10:1789244-1790443 [Gene]
  • LOC126860818:BRD4-independent group 4 enhancer GRCh37_chr10:1984230-1985429 [Gene]
  • LOC126860820:BRD4-independent group 4 enhancer GRCh37_chr10:2249820-2251019 [Gene]
  • LOC126860822:BRD4-independent group 4 enhancer GRCh37_chr10:2356765-2357964 [Gene]
  • LOC126860802:BRD4-independent group 4 enhancer GRCh37_chr10:294268-295467 [Gene]
  • LOC126860805:BRD4-independent group 4 enhancer GRCh37_chr10:390524-391723 [Gene]
  • LOC126860811:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:1234984-1236183 [Gene]
  • LOC126860817:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:1980919-1982118 [Gene]
  • LOC126860823:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:2964441-2965640 [Gene]
  • LOC126860803:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:310208-311407 [Gene]
  • LOC126860807:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:461462-462661 [Gene]
  • DIP2C-AS1:DIP2C antisense RNA 1 [Gene - HGNC]
  • GTPBP4:GTP binding protein 4 [Gene - OMIM - HGNC]
  • LOC111589206:HNF4 motif-containing MPRA enhancer 225 [Gene]
  • IDI2-AS1:IDI2 antisense RNA 1 [Gene - OMIM - HGNC]
  • LARP4B-DT:LARP4B divergent transcript [Gene - HGNC]
  • LARP4B:La ribonucleoprotein 4B [Gene - OMIM - HGNC]
  • LOC126860809:MED14-independent group 3 enhancer GRCh37_chr10:1141578-1142777 [Gene]
  • LOC126860810:MED14-independent group 3 enhancer GRCh37_chr10:1155609-1156808 [Gene]
  • LOC126860812:MED14-independent group 3 enhancer GRCh37_chr10:1451683-1452882 [Gene]
  • LOC126860819:MED14-independent group 3 enhancer GRCh37_chr10:2008580-2009779 [Gene]
  • LOC126860806:MED14-independent group 3 enhancer GRCh37_chr10:409736-410935 [Gene]
  • LOC129390119:MPRA-validated peak840 silencer [Gene]
  • LOC129390120:MPRA-validated peak841 silencer [Gene]
  • LOC129390121:MPRA-validated peak843 silencer [Gene]
  • LOC132090803:Neanderthal introgressed variant-containing enhancer experimental_17861 [Gene]
  • LOC126860814:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:1541598-1542797 [Gene]
  • LOC126860815:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:1576761-1577960 [Gene]
  • LOC126860821:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:2255844-2257043 [Gene]
  • LOC126860804:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:369502-370701 [Gene]
  • PFKP-DT:PFKP divergent transcript [Gene - HGNC]
  • LOC124403898:Sharpr-MPRA regulatory region 10920 [Gene]
  • LOC124403897:Sharpr-MPRA regulatory region 15592 [Gene]
  • LOC111832674:Sharpr-MPRA regulatory region 2332 [Gene]
  • LOC124403899:Sharpr-MPRA regulatory region 9114 [Gene]
  • LOC110121467:VISTA enhancer hs1958 [Gene]
  • WDR37:WD repeat domain 37 [Gene - OMIM - HGNC]
  • ADARB2:adenosine deaminase RNA specific B2 (inactive) [Gene - OMIM - HGNC]
  • DIP2C:disco interacting protein 2 homolog C [Gene - OMIM - HGNC]
  • IDI1:isopentenyl-diphosphate delta isomerase 1 [Gene - OMIM - HGNC]
  • IDI2:isopentenyl-diphosphate delta isomerase 2 [Gene - OMIM - HGNC]
  • LINC00200:long intergenic non-protein coding RNA 200 [Gene - HGNC]
  • LINC02645:long intergenic non-protein coding RNA 2645 [Gene - HGNC]
  • LINC02662:long intergenic non-protein coding RNA 2662 [Gene - HGNC]
  • LINC00700:long intergenic non-protein coding RNA 700 [Gene - HGNC]
  • LINC00701:long intergenic non-protein coding RNA 701 [Gene - HGNC]
  • MIR5699:microRNA 5699 [Gene - HGNC]
  • MIR6072:microRNA 6072 [Gene - HGNC]
  • LOC106783507:nonconserved acetylation island sequence 51 enhancer [Gene]
  • LOC101930421:uncharacterized LOC101930421 [Gene]
  • LOC105376350:uncharacterized LOC105376350 [Gene]
  • ZMYND11:zinc finger MYND-type containing 11 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
10p15.3-15.2
Genomic location:
Preferred name:
GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1
HGVS:
  • NC_000010.11:g.(?_90421)_(3058742_?)del
  • NC_000010.10:g.(?_224406)_(3100934_?)del
  • NC_000010.9:g.(?_126361)_(3090934_?)del
Links:
dbVar: nssv706290; dbVar: nsv530425
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
SCV000175467ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Jan 27, 2011) 		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, SCV000175467.4

#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