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GRCh38/hg38 17p11.2(chr17:21416753-22176920)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 1, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000136981.4

Allele description

GRCh38/hg38 17p11.2(chr17:21416753-22176920)x3

Genes:
  • LOC130060502:ATAC-STARR-seq lymphoblastoid silent region 8320 [Gene]
  • LOC130060503:ATAC-STARR-seq lymphoblastoid silent region 8321 [Gene]
  • LOC129390844:MPRA-validated peak2767 silencer [Gene]
  • LINC02693:long intergenic non-protein coding RNA 2693 [Gene - HGNC]
  • KCNJ12:potassium inwardly rectifying channel subfamily J member 12 [Gene - OMIM - HGNC]
  • KCNJ18:potassium inwardly rectifying channel subfamily J member 18 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
GRCh38/hg38 17p11.2(chr17:21416753-22176920)x3
HGVS:
  • NC_000017.11:g.(?_21416753)_(22176920_?)dup
  • NC_000017.10:g.(?_21381527)_(21703526_?)dup
  • NC_000017.9:g.(?_21260658)_(21627655_?)dup
Links:
dbVar: nssv582368; dbVar: nsv534369
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
SCV000177146ISCA site 8

See additional submitters

no assertion criteria provided
Uncertain significance
(Oct 1, 2010) 		tested-inconclusiveclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedtested-inconclusiveyes1not 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

Details of each submission

From ISCA site 8, SCV000177146.3

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

Last Updated: Oct 14, 2023