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GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 10, 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:
RCV000143502.5

Allele description [Variation Report for GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3]

GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3

Genes:
  • AFG2B:AFG2 AAA ATPase homolog B [Gene - OMIM - HGNC]
  • LOC130056981:ATAC-STARR-seq lymphoblastoid active region 9349 [Gene]
  • LOC130056983:ATAC-STARR-seq lymphoblastoid active region 9350 [Gene]
  • LOC130056986:ATAC-STARR-seq lymphoblastoid active region 9351 [Gene]
  • LOC130056987:ATAC-STARR-seq lymphoblastoid active region 9352 [Gene]
  • LOC130056989:ATAC-STARR-seq lymphoblastoid active region 9354 [Gene]
  • LOC130056990:ATAC-STARR-seq lymphoblastoid active region 9355 [Gene]
  • LOC130056992:ATAC-STARR-seq lymphoblastoid active region 9356 [Gene]
  • LOC130056993:ATAC-STARR-seq lymphoblastoid active region 9357 [Gene]
  • LOC130056994:ATAC-STARR-seq lymphoblastoid active region 9358 [Gene]
  • LOC130056995:ATAC-STARR-seq lymphoblastoid active region 9359 [Gene]
  • LOC130056996:ATAC-STARR-seq lymphoblastoid active region 9360 [Gene]
  • LOC130057000:ATAC-STARR-seq lymphoblastoid active region 9361 [Gene]
  • LOC130057002:ATAC-STARR-seq lymphoblastoid active region 9362 [Gene]
  • LOC130057003:ATAC-STARR-seq lymphoblastoid active region 9363 [Gene]
  • LOC130056982:ATAC-STARR-seq lymphoblastoid silent region 6400 [Gene]
  • LOC130056984:ATAC-STARR-seq lymphoblastoid silent region 6401 [Gene]
  • LOC130056985:ATAC-STARR-seq lymphoblastoid silent region 6402 [Gene]
  • LOC130056988:ATAC-STARR-seq lymphoblastoid silent region 6403 [Gene]
  • LOC130056991:ATAC-STARR-seq lymphoblastoid silent region 6406 [Gene]
  • LOC130056997:ATAC-STARR-seq lymphoblastoid silent region 6407 [Gene]
  • LOC130056998:ATAC-STARR-seq lymphoblastoid silent region 6408 [Gene]
  • LOC130056999:ATAC-STARR-seq lymphoblastoid silent region 6409 [Gene]
  • LOC130057001:ATAC-STARR-seq lymphoblastoid silent region 6410 [Gene]
  • LOC126862118:BRD4-independent group 4 enhancer GRCh37_chr15:45840653-45841852 [Gene]
  • LOC129390695:MPRA-validated peak2326 silencer [Gene]
  • SLC28A2-AS1:SLC28A2 antisense RNA 1 [Gene - HGNC]
  • SLC30A4-AS1:SLC30A4 antisense RNA 1 [Gene - HGNC]
  • SHF:Src homology 2 domain containing F [Gene - OMIM - HGNC]
  • BLOC1S6:biogenesis of lysosomal organelles complex 1 subunit 6 [Gene - OMIM - HGNC]
  • C15orf48:chromosome 15 open reading frame 48 [Gene - OMIM - HGNC]
  • DUOX1:dual oxidase 1 [Gene - OMIM - HGNC]
  • DUOX2:dual oxidase 2 [Gene - OMIM - HGNC]
  • DUOXA1:dual oxidase maturation factor 1 [Gene - OMIM - HGNC]
  • DUOXA2:dual oxidase maturation factor 2 [Gene - OMIM - HGNC]
  • GATM:glycine amidinotransferase [Gene - OMIM - HGNC]
  • MIR147B:microRNA 147b [Gene - HGNC]
  • SNORA41B:small nucleolar RNA, H/ACA box 41B [Gene - HGNC]
  • SLC28A2:solute carrier family 28 member 2 [Gene - OMIM - HGNC]
  • SLC30A4:solute carrier family 30 member 4 [Gene - OMIM - HGNC]
  • SORD:sorbitol dehydrogenase [Gene - OMIM - HGNC]
  • TRH-GTG1-7:tRNA-His (anticodon GTG) 1-7 [Gene - HGNC]
  • TRH-GTG1-8:tRNA-His (anticodon GTG) 1-8 [Gene - HGNC]
  • TRH-GTG1-9:tRNA-His (anticodon GTG) 1-9 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3
HGVS:
  • NC_000015.10:g.(?_45032714)_(45592481_?)dup
  • NC_000015.9:g.(?_45324912)_(45884679_?)dup
Links:
dbVar: nssv3397134; dbVar: nsv995539
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
SCV000182962ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jul 10, 2013) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000182962.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024