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GRCh38/hg38 9q32(chr9:113058848-113725516)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 6, 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:
RCV000135719.3

Allele description

GRCh38/hg38 9q32(chr9:113058848-113725516)x3

Genes:
  • BSPRY:B-box and SPRY domain containing [Gene - HGNC]
  • POLE3:DNA polymerase epsilon 3, accessory subunit [Gene - OMIM - HGNC]
  • FKBP15:FK506 binding protein 15 [Gene - OMIM - HGNC]
  • WDR31:WD repeat domain 31 [Gene - HGNC]
  • ALAD:aminolevulinate dehydratase [Gene - OMIM - HGNC]
  • CDC26:cell division cycle 26 [Gene - OMIM - HGNC]
  • C9orf43:chromosome 9 open reading frame 43 [Gene - HGNC]
  • FAM225A:family with sequence similarity 225 member A (non-protein coding) [Gene - HGNC]
  • FAM225B:family with sequence similarity 225 member B (non-protein coding) [Gene - HGNC]
  • HDHD3:haloacid dehalogenase like hydrolase domain containing 3 [Gene - HGNC]
  • PRPF4:pre-mRNA processing factor 4 [Gene - OMIM - HGNC]
  • RGS3:regulator of G protein signaling 3 [Gene - OMIM - HGNC]
  • RNF183:ring finger protein 183 [Gene - HGNC]
  • SLC31A1:solute carrier family 31 member 1 [Gene - OMIM - HGNC]
  • SLC31A2:solute carrier family 31 member 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
9q32
Genomic location:
Preferred name:
GRCh38/hg38 9q32(chr9:113058848-113725516)x3
HGVS:
  • NC_000009.12:g.(?_113058848)_(113725516_?)dup
  • NC_000009.10:g.(?_114860949)_(115527617_?)dup
  • NC_000009.11:g.(?_115821128)_(116487796_?)dup
Links:
dbVar: nssv581369; dbVar: nsv530949
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
SCV000175614ISCA site 1

See additional submitters

criteria provided, single submitter

(Submitter's publication)		Uncertain significance
(May 6, 2011) 		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

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, SCV000175614.3

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

Last Updated: Jul 15, 2017