GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)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:
RCV000052110.5

Allele description [Variation Report for GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1]

GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1

Genes:
  • GRAMD2B:GRAM domain containing 2B [Gene - HGNC]
  • ALDH7A1:aldehyde dehydrogenase 7 family member A1 [Gene - OMIM - HGNC]
  • C5orf63:chromosome 5 open reading frame 63 [Gene - HGNC]
  • CCDC192:coiled-coil domain containing 192 [Gene - HGNC]
  • CTXN3:cortexin 3 [Gene - HGNC]
  • FBN2:fibrillin 2 [Gene - OMIM - HGNC]
  • LMNB1:lamin B1 [Gene - OMIM - HGNC]
  • LINC01184:long intergenic non-protein coding RNA 1184 [Gene - HGNC]
  • MARCH3:membrane associated ring-CH-type finger 3 [Gene - OMIM - HGNC]
  • MEGF10:multiple EGF like domains 10 [Gene - OMIM - HGNC]
  • PHAX:phosphorylated adaptor for RNA export [Gene - OMIM - HGNC]
  • PRRC1:proline rich coiled-coil 1 [Gene - HGNC]
  • SLC12A2:solute carrier family 12 member 2 [Gene - OMIM - HGNC]
  • TEX43:testis expressed 43 [Gene - HGNC]
  • LOC102723557:uncharacterized LOC102723557 [Gene]
Variant type:
copy number loss
Cytogenetic location:
5q23.2-23.3
Genomic location:
Preferred name:
GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1
HGVS:
  • NC_000005.10:g.(?_126458947)_(128537986_?)del
  • NC_000005.8:g.(?_125822538)_(127901578_?)del
  • NC_000005.9:g.(?_125794639)_(127873679_?)del
Links:
dbVar: nssv578078; dbVar: nsv530821
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
SCV000079459ISCA site 15

See additional submitters

criteria provided, single submitter
Pathogenic
(Aug 12, 2011)
maternalclinical 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.

SCV000079459

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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 15, SCV000079459.5

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

Last Updated: Jul 15, 2017