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GRCh38/hg38 7p21.1(chr7:16838053-17663993)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2010
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:
RCV000135523.5

Allele description [Variation Report for GRCh38/hg38 7p21.1(chr7:16838053-17663993)x3]

GRCh38/hg38 7p21.1(chr7:16838053-17663993)x3

Genes:
  • LOC129998007:ATAC-STARR-seq lymphoblastoid active region 25670 [Gene]
  • LOC129998008:ATAC-STARR-seq lymphoblastoid active region 25671 [Gene]
  • LOC129998009:ATAC-STARR-seq lymphoblastoid active region 25672 [Gene]
  • LOC129998010:ATAC-STARR-seq lymphoblastoid silent region 17983 [Gene]
  • LOC129998011:ATAC-STARR-seq lymphoblastoid silent region 17984 [Gene]
  • LOC129998012:ATAC-STARR-seq lymphoblastoid silent region 17985 [Gene]
  • LOC129998013:ATAC-STARR-seq lymphoblastoid silent region 17986 [Gene]
  • LOC126859951:MED14-independent group 3 enhancer GRCh37_chr7:17411084-17412283 [Gene]
  • LOC126859950:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:17273731-17274930 [Gene]
  • LOC126859952:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:17445039-17446238 [Gene]
  • LOC123924911:Sharpr-MPRA regulatory region 11479 [Gene]
  • LOC123924913:Sharpr-MPRA regulatory region 7324 [Gene]
  • LOC123924912:Sharpr-MPRA regulatory regions 10536 and 6796 [Gene]
  • AGR3:anterior gradient 3, protein disulphide isomerase family member [Gene - OMIM - HGNC]
  • AHR:aryl hydrocarbon receptor [Gene - OMIM - HGNC]
  • LINC02888:long intergenic non-protein coding RNA 2888 [Gene - HGNC]
  • LINC02889:long intergenic non-protein coding RNA 2889 [Gene - HGNC]
  • LOC128772304:melanoma risk locus-associated MPRA allelic enhancer 7:17134708 [Gene]
Variant type:
copy number gain
Cytogenetic location:
7p21.1
Genomic location:
Preferred name:
GRCh38/hg38 7p21.1(chr7:16838053-17663993)x3
HGVS:
  • NC_000007.14:g.(?_16838053)_(17663993_?)dup
  • NC_000007.12:g.(?_16844202)_(17670142_?)dup
  • NC_000007.13:g.(?_16877677)_(17703617_?)dup
Links:
dbVar: nssv576404; dbVar: nssv582761; dbVar: nsv529874
Observations:
2

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
SCV000175388ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Dec 22, 2010) 		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
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, SCV000175388.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided
2unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024