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GRCh38/hg38 10q21.2-21.3(chr10:60977777-62913465)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 11, 2013
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:
RCV000143288.5

Allele description [Variation Report for GRCh38/hg38 10q21.2-21.3(chr10:60977777-62913465)x3]

GRCh38/hg38 10q21.2-21.3(chr10:60977777-62913465)x3

Genes:
  • ADO:2-aminoethanethiol dioxygenase [Gene - OMIM - HGNC]
  • ARID5B:AT-rich interaction domain 5B [Gene - OMIM - HGNC]
  • LOC130003868:ATAC-STARR-seq lymphoblastoid active region 3395 [Gene]
  • LOC130003869:ATAC-STARR-seq lymphoblastoid active region 3396 [Gene]
  • LOC130003870:ATAC-STARR-seq lymphoblastoid active region 3397 [Gene]
  • LOC130003871:ATAC-STARR-seq lymphoblastoid active region 3398 [Gene]
  • LOC130003874:ATAC-STARR-seq lymphoblastoid active region 3399 [Gene]
  • LOC130003875:ATAC-STARR-seq lymphoblastoid active region 3400 [Gene]
  • LOC130003876:ATAC-STARR-seq lymphoblastoid active region 3401 [Gene]
  • LOC130003877:ATAC-STARR-seq lymphoblastoid active region 3402 [Gene]
  • LOC130003878:ATAC-STARR-seq lymphoblastoid active region 3403 [Gene]
  • LOC130003879:ATAC-STARR-seq lymphoblastoid active region 3404 [Gene]
  • LOC130003880:ATAC-STARR-seq lymphoblastoid active region 3405 [Gene]
  • LOC130003881:ATAC-STARR-seq lymphoblastoid active region 3406 [Gene]
  • LOC130003882:ATAC-STARR-seq lymphoblastoid active region 3407 [Gene]
  • LOC130003883:ATAC-STARR-seq lymphoblastoid active region 3408 [Gene]
  • LOC130003884:ATAC-STARR-seq lymphoblastoid active region 3410 [Gene]
  • LOC130003885:ATAC-STARR-seq lymphoblastoid active region 3411 [Gene]
  • LOC130003886:ATAC-STARR-seq lymphoblastoid active region 3412 [Gene]
  • LOC130003888:ATAC-STARR-seq lymphoblastoid active region 3413 [Gene]
  • LOC130003889:ATAC-STARR-seq lymphoblastoid active region 3414 [Gene]
  • LOC130003891:ATAC-STARR-seq lymphoblastoid active region 3415 [Gene]
  • LOC130003893:ATAC-STARR-seq lymphoblastoid active region 3416 [Gene]
  • LOC130003894:ATAC-STARR-seq lymphoblastoid active region 3417 [Gene]
  • LOC130003895:ATAC-STARR-seq lymphoblastoid active region 3418 [Gene]
  • LOC130003896:ATAC-STARR-seq lymphoblastoid active region 3419 [Gene]
  • LOC130003897:ATAC-STARR-seq lymphoblastoid active region 3420 [Gene]
  • LOC130003898:ATAC-STARR-seq lymphoblastoid active region 3421 [Gene]
  • LOC130003899:ATAC-STARR-seq lymphoblastoid active region 3422 [Gene]
  • LOC130003900:ATAC-STARR-seq lymphoblastoid active region 3423 [Gene]
  • LOC130003902:ATAC-STARR-seq lymphoblastoid active region 3424 [Gene]
  • LOC130003903:ATAC-STARR-seq lymphoblastoid active region 3428 [Gene]
  • LOC130003904:ATAC-STARR-seq lymphoblastoid active region 3429 [Gene]
  • LOC130003906:ATAC-STARR-seq lymphoblastoid active region 3430 [Gene]
  • LOC130003911:ATAC-STARR-seq lymphoblastoid active region 3432 [Gene]
  • LOC130003912:ATAC-STARR-seq lymphoblastoid active region 3433 [Gene]
  • LOC130003872:ATAC-STARR-seq lymphoblastoid silent region 2393 [Gene]
  • LOC130003873:ATAC-STARR-seq lymphoblastoid silent region 2394 [Gene]
  • LOC130003887:ATAC-STARR-seq lymphoblastoid silent region 2395 [Gene]
  • LOC130003890:ATAC-STARR-seq lymphoblastoid silent region 2396 [Gene]
  • LOC130003892:ATAC-STARR-seq lymphoblastoid silent region 2397 [Gene]
  • LOC130003901:ATAC-STARR-seq lymphoblastoid silent region 2398 [Gene]
  • LOC130003905:ATAC-STARR-seq lymphoblastoid silent region 2399 [Gene]
  • LOC130003907:ATAC-STARR-seq lymphoblastoid silent region 2400 [Gene]
  • LOC130003908:ATAC-STARR-seq lymphoblastoid silent region 2401 [Gene]
  • LOC130003909:ATAC-STARR-seq lymphoblastoid silent region 2402 [Gene]
  • LOC130003910:ATAC-STARR-seq lymphoblastoid silent region 2404 [Gene]
  • LOC126860943:BRD4-independent group 4 enhancer GRCh37_chr10:63810242-63811441 [Gene]
  • LOC126860945:BRD4-independent group 4 enhancer GRCh37_chr10:64414839-64416038 [Gene]
  • LOC126860941:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:63169609-63170808 [Gene]
  • LOC126860942:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:63541146-63542345 [Gene]
  • LOC126860944:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:64143375-64144574 [Gene]
  • LOC116216113:CRISPRi-validated cis-regulatory element chr10.1925 [Gene]
  • LOC129390171:MPRA-validated peak951 silencer [Gene]
  • LOC129390172:MPRA-validated peak953 silencer [Gene]
  • LOC129390173:MPRA-validated peak956 silencer [Gene]
  • LOC129390174:MPRA-validated peak957 silencer [Gene]
  • LOC129390175:MPRA-validated peak958 silencer [Gene]
  • LOC132089793:Neanderthal introgressed variant-containing enhancer experimental_13587 [Gene]
  • LOC132089794:Neanderthal introgressed variant-containing enhancer experimental_13605 [Gene]
  • LOC132090811:Neanderthal introgressed variant-containing enhancer experimental_13640 [Gene]
  • LOC132089795:Neanderthal introgressed variant-containing enhancer experimental_13669 [Gene]
  • LOC132089796:Neanderthal introgressed variant-containing enhancer experimental_13680 [Gene]
  • LOC132089797:Neanderthal introgressed variant-containing enhancer experimental_13703 [Gene]
  • LOC132089798:Neanderthal introgressed variant-containing enhancer experimental_13731 [Gene]
  • LOC132211101:Neanderthal introgressed variant-containing enhancers experimental_13720/13722 and experimental_13723 [Gene]
  • RHOBTB1:Rho related BTB domain containing 1 [Gene - OMIM - HGNC]
  • LOC121815942:Sharpr-MPRA regulatory region 11943 [Gene]
  • LOC124403963:Sharpr-MPRA regulatory region 13978 [Gene]
  • LOC124403962:Sharpr-MPRA regulatory region 6107 [Gene]
  • LOC111946249:Sharpr-MPRA regulatory region 6196 [Gene]
  • TMEM26-AS1:TMEM26 antisense RNA 1 [Gene - HGNC]
  • CABCOCO1:ciliary associated calcium binding coiled-coil 1 [Gene - HGNC]
  • EGR2:early growth response 2 [Gene - OMIM - HGNC]
  • LINC02621:long intergenic non-protein coding RNA 2621 [Gene - HGNC]
  • LINC00845:long intergenic non-protein coding RNA 845 [Gene - HGNC]
  • RTKN2:rhotekin 2 [Gene - OMIM - HGNC]
  • TMEM26:transmembrane protein 26 [Gene - OMIM - HGNC]
  • LOC283045:uncharacterized LOC283045 [Gene]
  • ZNF365:zinc finger protein 365 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
10q21.2-21.3
Genomic location:
Preferred name:
GRCh38/hg38 10q21.2-21.3(chr10:60977777-62913465)x3
HGVS:
  • NC_000010.11:g.(?_60977777)_(62913465_?)dup
  • NC_000010.10:g.(?_62737535)_(64673225_?)dup
Links:
dbVar: nssv1610440; dbVar: nsv932246
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
SCV000181727ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Mar 11, 2013) 		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, SCV000181727.4

#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