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GRCh38/hg38 9q21.33(chr9:84797249-85664850)x3 AND See cases

Germline classification:
conflicting data from submitters (1 submission)
Last evaluated:
Jun 22, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
conflicting data from submitters (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:
RCV000143535.5

Allele description [Variation Report for GRCh38/hg38 9q21.33(chr9:84797249-85664850)x3]

GRCh38/hg38 9q21.33(chr9:84797249-85664850)x3

Genes:
  • LOC130001955:ATAC-STARR-seq lymphoblastoid active region 28511 [Gene]
  • LOC130001956:ATAC-STARR-seq lymphoblastoid active region 28512 [Gene]
  • LOC130001957:ATAC-STARR-seq lymphoblastoid silent region 19986 [Gene]
  • AGTPBP1:ATP/GTP binding carboxypeptidase 1 [Gene - OMIM - HGNC]
  • LOC126860663:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:87872518-87873717 [Gene]
  • LOC126860664:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:88029701-88030900 [Gene]
  • LOC126860661:MED14-independent group 3 enhancer GRCh37_chr9:87466721-87467920 [Gene]
  • LOC126860662:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:87659683-87660882 [Gene]
  • NTRK2:neurotrophic receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
9q21.33
Genomic location:
Preferred name:
GRCh38/hg38 9q21.33(chr9:84797249-85664850)x3
HGVS:
  • NC_000009.12:g.(?_84797249)_(85664850_?)dup
  • NC_000009.11:g.(?_87412164)_(88279765_?)dup
Links:
dbVar: nssv13656433; dbVar: nssv3397238; dbVar: nssv3397349; dbVar: nsv995629
Observations:
3

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
SCV000183055ISCA site 1

See additional submitters

no assertion criteria provided
conflicting data from submitters
(Jun 22, 2015) 		not provided, maternal, paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot providednot providednot providedclinical testing
not providedmaternalyes1not providednot providednot providednot providedclinical testing
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, SCV000183055.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
3human1not providednot providedclinical testing PubMed (1)

Description

Uncertain significance(1), Likely benign (2)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedDiscovery1not providednot providednot provided
2paternalyesnot providednot providedDiscovery1not providednot providednot provided
3not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023