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GRCh38/hg38 4q24(chr4:100579010-101522050)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 25, 2013
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:
RCV000140237.5

Allele description [Variation Report for GRCh38/hg38 4q24(chr4:100579010-101522050)x1]

GRCh38/hg38 4q24(chr4:100579010-101522050)x1

Genes:
  • LOC129992864:ATAC-STARR-seq lymphoblastoid active region 21745 [Gene]
  • LOC129992865:ATAC-STARR-seq lymphoblastoid active region 21746 [Gene]
  • LOC129992867:ATAC-STARR-seq lymphoblastoid active region 21747 [Gene]
  • LOC129992869:ATAC-STARR-seq lymphoblastoid active region 21748 [Gene]
  • LOC129992866:ATAC-STARR-seq lymphoblastoid silent region 15589 [Gene]
  • LOC129992868:ATAC-STARR-seq lymphoblastoid silent region 15590 [Gene]
  • LOC129992870:ATAC-STARR-seq lymphoblastoid silent region 15591 [Gene]
  • LOC129992871:ATAC-STARR-seq lymphoblastoid silent region 15592 [Gene]
  • LOC129992872:ATAC-STARR-seq lymphoblastoid silent region 15593 [Gene]
  • LOC132088988:Neanderthal introgressed variant-containing enhancer experimental_71492 [Gene]
  • LOC132090708:Neanderthal introgressed variant-containing enhancer experimental_71505 [Gene]
  • LOC121725180:Sharpr-MPRA regulatory region 14793 [Gene]
  • LOC123477794:Sharpr-MPRA regulatory region 422 [Gene]
  • LOC123477793:Sharpr-MPRA regulatory region 8198 [Gene]
  • LINC01216:long intergenic non-protein coding RNA 1216 [Gene - HGNC]
  • LINC01217:long intergenic non-protein coding RNA 1217 [Gene - HGNC]
  • LINC01218:long intergenic non-protein coding RNA 1218 [Gene - HGNC]
  • MIR1255A:microRNA 1255a [Gene - HGNC]
  • MIR8066:microRNA 8066 [Gene - HGNC]
  • PPP3CA:protein phosphatase 3 catalytic subunit alpha [Gene - OMIM - HGNC]
  • FLJ20021:uncharacterized LOC90024 [Gene]
Variant type:
copy number loss
Cytogenetic location:
4q24
Genomic location:
Preferred name:
GRCh38/hg38 4q24(chr4:100579010-101522050)x1
HGVS:
  • NC_000004.12:g.(?_100579010)_(101522050_?)del
  • NC_000004.10:g.(?_101719190)_(102662230_?)del
  • NC_000004.11:g.(?_101500167)_(102443207_?)del
Links:
dbVar: nssv1609377; dbVar: nsv931418
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
SCV000180916ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jan 25, 2013) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde 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, SCV000180916.4

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

Last Updated: Sep 1, 2024