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GRCh38/hg38 18q23(chr18:79475881-79766196)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000052080.5

Allele description [Variation Report for GRCh38/hg38 18q23(chr18:79475881-79766196)x1]

GRCh38/hg38 18q23(chr18:79475881-79766196)x1

Genes:
  • LOC130062781:ATAC-STARR-seq lymphoblastoid active region 13542 [Gene]
  • LOC130062782:ATAC-STARR-seq lymphoblastoid active region 13543 [Gene]
  • LOC130062783:ATAC-STARR-seq lymphoblastoid active region 13544 [Gene]
  • LOC130062784:ATAC-STARR-seq lymphoblastoid silent region 9576 [Gene]
  • LOC126862832:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:77330216-77331415 [Gene]
  • LOC129456126:CRISPR/Cas9-targeted silencer 8 [Gene]
  • CTDP1:CTD phosphatase subunit 1 [Gene - OMIM - HGNC]
  • CTDP1-DT:CTDP1 divergent transcript [Gene - HGNC]
  • LOC132090530:Neanderthal introgressed variant-containing enhancer experimental_50638 [Gene]
  • LOC132090901:Neanderthal introgressed variant-containing enhancer experimental_50709 [Gene]
  • NFATC1:nuclear factor of activated T cells 1 [Gene - OMIM - HGNC]
  • LOC105372228:uncharacterized LOC105372228 [Gene]
  • LOC284240:uncharacterized LOC284240 [Gene]
Variant type:
copy number loss
Cytogenetic location:
18q23
Genomic location:
Preferred name:
GRCh38/hg38 18q23(chr18:79475881-79766196)x1
HGVS:
  • NC_000018.10:g.(?_79475881)_(79766196_?)del
  • NC_000018.8:g.(?_75336869)_(75627184_?)del
  • NC_000018.9:g.(?_77235881)_(77526196_?)del
Links:
dbVar: nssv580435; dbVar: nsv530792
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
SCV000079429GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		not providedclinical 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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000079429.4

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

Last Updated: Oct 14, 2023