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GRCh37/hg19 15q11.2(chr15:22698522-23217514)x3 AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
classified by 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:
RCV000050333.1

Allele description

GRCh37/hg19 15q11.2(chr15:22698522-23217514)x3

Genes:
CYFIP1:cytoplasmic FMR1 interacting protein 1 [Gene - OMIM]
NIPA2:non imprinted in Prader-Willi/Angelman syndrome 2 [Gene - OMIM]
TUBGCP5:tubulin, gamma complex associated protein 5 [Gene - OMIM]
NIPA1:non imprinted in Prader-Willi/Angelman syndrome 1 [Gene - OMIM]
GOLGA6L1:golgin A6 family-like 1 [Gene]
Variant type:
copy number gain
Cytogenetic location:
15q11.2
Preferred name:
GRCh37/hg19 15q11.2(chr15:22698522-23217514)x3
HGVS:
NC_000015.9:g.(?_22698522)_(23217514_?)dup
Links:
dbVar: nsv491715
Observations:
1

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874
Prevalence:
Mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.
Name:
Abnormality of the nervous system
Identifiers:
MedGen: CN130045

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000077640International Standards For Cytogenomic Arrays Consortium (ISCA)
classified by single submitter
Uncertain significance
(Aug 12, 2011) 		not providedclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not 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

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 International Standards For Cytogenomic Arrays Consortium (ISCA), SCV000077640.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Jul 18, 2014