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GRCh38/hg38 10q24.32(chr10:101510559-101748381)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 14, 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:
RCV000143048.5

Allele description [Variation Report for GRCh38/hg38 10q24.32(chr10:101510559-101748381)x3]

GRCh38/hg38 10q24.32(chr10:101510559-101748381)x3

Genes:
  • LOC130004558:ATAC-STARR-seq lymphoblastoid active region 3912 [Gene]
  • LOC130004559:ATAC-STARR-seq lymphoblastoid active region 3913 [Gene]
  • LOC130004561:ATAC-STARR-seq lymphoblastoid active region 3914 [Gene]
  • LOC130004562:ATAC-STARR-seq lymphoblastoid active region 3915 [Gene]
  • LOC130004557:ATAC-STARR-seq lymphoblastoid silent region 2721 [Gene]
  • LOC130004560:ATAC-STARR-seq lymphoblastoid silent region 2722 [Gene]
  • LOC130004563:ATAC-STARR-seq lymphoblastoid silent region 2723 [Gene]
  • LOC130004564:ATAC-STARR-seq lymphoblastoid silent region 2724 [Gene]
  • LOC130004565:ATAC-STARR-seq lymphoblastoid silent region 2725 [Gene]
  • POLL:DNA polymerase lambda [Gene - OMIM - HGNC]
  • FBXW4:F-box and WD repeat domain containing 4 [Gene - OMIM - HGNC]
  • LOC124416891:Sharpr-MPRA regulatory region 8306 [Gene]
  • BTRC:beta-transducin repeat containing E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • DPCD:deleted in primary ciliary dyskinesia homolog (mouse) [Gene - OMIM - HGNC]
  • LINC03046:long intergenic non-protein coding RNA 3046 [Gene - HGNC]
  • MIR3158-1:microRNA 3158-1 [Gene - HGNC]
  • MIR3158-2:microRNA 3158-2 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
10q24.32
Genomic location:
Preferred name:
GRCh38/hg38 10q24.32(chr10:101510559-101748381)x3
HGVS:
  • NC_000010.11:g.(?_101510559)_(101748381_?)dup
  • NC_000010.10:g.(?_103270316)_(103508138_?)dup
  • NC_000010.9:g.(?_103260306)_(103498128_?)dup
Links:
dbVar: nssv1605205; dbVar: nsv917151
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
SCV000180232ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Aug 14, 2012) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000180232.4

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

Last Updated: May 7, 2024