• delete

GRCh38/hg38 9p24.3-24.2(chr9:203993-4164349)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000054328.4

Allele description

GRCh38/hg38 9p24.3-24.2(chr9:203993-4164349)x1

Genes:
  • GLIS3:GLIS family zinc finger 3 [Gene - OMIM - HGNC]
  • GLIS3-AS1:GLIS3 antisense RNA 1 [Gene - HGNC]
  • KANK1:KN motif and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
  • RFX3-AS1:RFX3 antisense RNA 1 [Gene - HGNC]
  • SMARCA2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 [Gene - OMIM - HGNC]
  • VLDLR-AS1:VLDLR antisense RNA 1 [Gene - HGNC]
  • C9orf66:chromosome 9 open reading frame 66 [Gene - HGNC]
  • DOCK8:dedicator of cytokinesis 8 [Gene - OMIM - HGNC]
  • DMRT1:doublesex and mab-3 related transcription factor 1 [Gene - OMIM - HGNC]
  • DMRT2:doublesex and mab-3 related transcription factor 2 [Gene - OMIM - HGNC]
  • DMRT3:doublesex and mab-3 related transcription factor 3 [Gene - OMIM - HGNC]
  • LINC01230:long intergenic non-protein coding RNA 1230 [Gene - HGNC]
  • LINC01231:long intergenic non-protein coding RNA 1231 [Gene - HGNC]
  • KCNV2:potassium voltage-gated channel modifier subfamily V member 2 [Gene - OMIM - HGNC]
  • PUM3:pumilio RNA binding family member 3 [Gene - OMIM - HGNC]
  • RFX3:regulatory factor X3 [Gene - OMIM - HGNC]
  • VLDLR:very low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9p24.3-24.2
Genomic location:
Preferred name:
GRCh38/hg38 9p24.3-24.2(chr9:203993-4164349)x1
HGVS:
  • NC_000009.12:g.(?_203993)_(4164349_?)del
  • NC_000009.10:g.(?_193993)_(4154349_?)del
  • NC_000009.11:g.(?_203993)_(4164349_?)del
Links:
dbVar: nssv578302; dbVar: nsv532970
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000081694ISCA site 1

See additional submitters

criteria provided, single submitter
Pathogenic
(Aug 12, 2011)
not providedclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011.

SCV000081694

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 ISCA site 1, SCV000081694.4

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

Last Updated: Jul 15, 2017

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