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GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 14, 2011
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:
RCV000137400.6

Allele description [Variation Report for GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)x1]

GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)x1

Genes:
  • LOC129993053:ATAC-STARR-seq lymphoblastoid active region 21886 [Gene]
  • LOC129993054:ATAC-STARR-seq lymphoblastoid active region 21887 [Gene]
  • LOC129993049:ATAC-STARR-seq lymphoblastoid silent region 15671 [Gene]
  • LOC129993050:ATAC-STARR-seq lymphoblastoid silent region 15672 [Gene]
  • LOC129993051:ATAC-STARR-seq lymphoblastoid silent region 15673 [Gene]
  • LOC129993052:ATAC-STARR-seq lymphoblastoid silent region 15674 [Gene]
  • LOC129993055:ATAC-STARR-seq lymphoblastoid silent region 15675 [Gene]
  • LOC129993056:ATAC-STARR-seq lymphoblastoid silent region 15676 [Gene]
  • LOC129993057:ATAC-STARR-seq lymphoblastoid silent region 15677 [Gene]
  • LOC129993058:ATAC-STARR-seq lymphoblastoid silent region 15678 [Gene]
  • LOC126807151:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:128607842-128609041 [Gene]
  • LOC132090712:Neanderthal introgressed variant-containing enhancer experimental_73515 [Gene]
  • LOC132089023:Neanderthal introgressed variant-containing enhancer experimental_73569 [Gene]
  • LOC132090713:Neanderthal introgressed variant-containing enhancer experimental_73803 [Gene]
  • LOC132089024:Neanderthal introgressed variant-containing enhancer experimental_73815 [Gene]
  • LOC132089025:Neanderthal introgressed variant-containing enhancer experimental_73859 [Gene]
  • LOC123480930:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:128629462-128630661 [Gene]
  • LOC123480929:Sharpr-MPRA regulatory region 5357 [Gene]
  • ABHD18:abhydrolase domain containing 18 [Gene - HGNC]
  • HSPA4L:heat shock protein family A (Hsp70) member 4 like [Gene - OMIM - HGNC]
  • INTU:inturned planar cell polarity protein [Gene - OMIM - HGNC]
  • MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]
  • PLK4:polo like kinase 4 [Gene - OMIM - HGNC]
  • SLC25A31:solute carrier family 25 member 31 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
4q28.1-28.2
Genomic location:
Preferred name:
GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)x1
HGVS:
  • NC_000004.12:g.(?_127371061)_(127994046_?)del
  • NC_000004.10:g.(?_128511666)_(129134651_?)del
  • NC_000004.11:g.(?_128292216)_(128915201_?)del
Links:
dbVar: nssv1415229; dbVar: nsv817326
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
SCV000177621ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Apr 14, 2011) 		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

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, SCV000177621.4

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

Last Updated: May 7, 2024