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GRCh38/hg38 7p22.1(chr7:5378314-5849934)x4 AND See cases

Germline classification:
Likely pathogenic (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:
RCV000139038.4

Allele description [Variation Report for GRCh38/hg38 7p22.1(chr7:5378314-5849934)x4]

GRCh38/hg38 7p22.1(chr7:5378314-5849934)x4

Genes:
  • LOC129997879:ATAC-STARR-seq lymphoblastoid active region 25576 [Gene]
  • LOC129997881:ATAC-STARR-seq lymphoblastoid active region 25580 [Gene]
  • LOC129997882:ATAC-STARR-seq lymphoblastoid active region 25581 [Gene]
  • LOC129997884:ATAC-STARR-seq lymphoblastoid active region 25584 [Gene]
  • LOC129997885:ATAC-STARR-seq lymphoblastoid active region 25585 [Gene]
  • LOC129997886:ATAC-STARR-seq lymphoblastoid active region 25586 [Gene]
  • LOC129997887:ATAC-STARR-seq lymphoblastoid active region 25587 [Gene]
  • LOC129997888:ATAC-STARR-seq lymphoblastoid active region 25588 [Gene]
  • LOC129997889:ATAC-STARR-seq lymphoblastoid active region 25589 [Gene]
  • LOC129997890:ATAC-STARR-seq lymphoblastoid active region 25590 [Gene]
  • LOC129997892:ATAC-STARR-seq lymphoblastoid active region 25594 [Gene]
  • LOC129997893:ATAC-STARR-seq lymphoblastoid active region 25595 [Gene]
  • LOC129997894:ATAC-STARR-seq lymphoblastoid active region 25596 [Gene]
  • LOC129997895:ATAC-STARR-seq lymphoblastoid active region 25597 [Gene]
  • LOC129997896:ATAC-STARR-seq lymphoblastoid active region 25598 [Gene]
  • LOC129997897:ATAC-STARR-seq lymphoblastoid active region 25599 [Gene]
  • LOC129997898:ATAC-STARR-seq lymphoblastoid active region 25602 [Gene]
  • LOC129997900:ATAC-STARR-seq lymphoblastoid active region 25603 [Gene]
  • LOC129997901:ATAC-STARR-seq lymphoblastoid active region 25604 [Gene]
  • LOC129997905:ATAC-STARR-seq lymphoblastoid active region 25605 [Gene]
  • LOC129997906:ATAC-STARR-seq lymphoblastoid active region 25606 [Gene]
  • LOC129997907:ATAC-STARR-seq lymphoblastoid active region 25607 [Gene]
  • LOC129997908:ATAC-STARR-seq lymphoblastoid active region 25608 [Gene]
  • LOC129997910:ATAC-STARR-seq lymphoblastoid active region 25609 [Gene]
  • LOC129997911:ATAC-STARR-seq lymphoblastoid active region 25610 [Gene]
  • LOC129997912:ATAC-STARR-seq lymphoblastoid active region 25611 [Gene]
  • LOC129997914:ATAC-STARR-seq lymphoblastoid active region 25612 [Gene]
  • LOC129997880:ATAC-STARR-seq lymphoblastoid silent region 17914 [Gene]
  • LOC129997883:ATAC-STARR-seq lymphoblastoid silent region 17916 [Gene]
  • LOC129997891:ATAC-STARR-seq lymphoblastoid silent region 17919 [Gene]
  • LOC129997899:ATAC-STARR-seq lymphoblastoid silent region 17924 [Gene]
  • LOC129997902:ATAC-STARR-seq lymphoblastoid silent region 17925 [Gene]
  • LOC129997903:ATAC-STARR-seq lymphoblastoid silent region 17926 [Gene]
  • LOC129997904:ATAC-STARR-seq lymphoblastoid silent region 17928 [Gene]
  • LOC129997909:ATAC-STARR-seq lymphoblastoid silent region 17929 [Gene]
  • LOC129997913:ATAC-STARR-seq lymphoblastoid silent region 17930 [Gene]
  • LOC126859937:BRD4-independent group 4 enhancer GRCh37_chr7:5741581-5742780 [Gene]
  • LOC116183082:CRISPRi-validated cis-regulatory element chr7.769 [Gene]
  • FBXL18:F-box and leucine rich repeat protein 18 [Gene - OMIM - HGNC]
  • RNF216-IT1:RNF216 intronic transcript 1 [Gene - HGNC]
  • LOC113748396:Sharpr-MPRA regulatory region 1133 [Gene]
  • LOC113748395:Sharpr-MPRA regulatory region 4030 [Gene]
  • LOC110121162:VISTA enhancer hs1623 [Gene]
  • ACTB:actin beta [Gene - OMIM - HGNC]
  • FSCN1:fascin actin-bundling protein 1 [Gene - OMIM - HGNC]
  • LINC02983:long intergenic non-protein coding RNA 2983 [Gene - HGNC]
  • LINC03073:long intergenic non-protein coding RNA 3073 [Gene - HGNC]
  • MIR589:microRNA 589 [Gene - HGNC]
  • MIR6874:microRNA 6874 [Gene - HGNC]
  • RNF216:ring finger protein 216 [Gene - OMIM - HGNC]
  • TNRC18:trinucleotide repeat containing 18 [Gene - HGNC]
  • LOC221946:uncharacterized LOC221946 [Gene]
Variant type:
copy number gain
Cytogenetic location:
7p22.1
Genomic location:
Preferred name:
GRCh38/hg38 7p22.1(chr7:5378314-5849934)x4
HGVS:
  • NC_000007.14:g.(?_5378314)_(5849934_?)dup
  • NC_000007.12:g.(?_5384471)_(5856091_?)dup
  • NC_000007.13:g.(?_5417945)_(5889565_?)dup
Links:
dbVar: nssv1602965; dbVar: nsv916391
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
SCV000179515ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Aug 14, 2012) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humande novoyes1not 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, SCV000179515.4

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

Last Updated: Oct 14, 2023