GRCh37/hg19 17q12(chr17:34822465-36283612)x3 AND See cases

Clinical significance:Likely pathogenic (Last evaluated: Jan 21, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000143663.4

Allele description [Variation Report for GRCh37/hg19 17q12(chr17:34822465-36283612)x3]

GRCh37/hg19 17q12(chr17:34822465-36283612)x3

Genes:
  • DDX52:DExD-box helicase 52 [Gene - OMIM - HGNC]
  • HNF1B:HNF1 homeobox B [Gene - OMIM - HGNC]
  • LHX1-DT:LHX1 divergent transcript [Gene - HGNC]
  • LHX1:LIM homeobox 1 [Gene - OMIM - HGNC]
  • LOC112529910:Sharpr-MPRA regulatory region 14078 [Gene]
  • LOC110120863:VISTA enhancer hs363 [Gene]
  • ACACA:acetyl-CoA carboxylase alpha [Gene - OMIM - HGNC]
  • AATF:apoptosis antagonizing transcription factor [Gene - OMIM - HGNC]
  • C17orf78:chromosome 17 open reading frame 78 [Gene - HGNC]
  • DHRS11:dehydrogenase/reductase 11 [Gene - OMIM - HGNC]
  • DUSP14:dual specificity phosphatase 14 [Gene - OMIM - HGNC]
  • GGNBP2:gametogenetin binding protein 2 [Gene - OMIM - HGNC]
  • MIR2909:microRNA 2909 [Gene - HGNC]
  • MIR378J:microRNA 378j [Gene - HGNC]
  • MRM1:mitochondrial rRNA methyltransferase 1 [Gene - OMIM - HGNC]
  • SNORA90:small nucleolar RNA, H/ACA box 90 [Gene - HGNC]
  • SYNRG:synergin gamma [Gene - OMIM - HGNC]
  • TADA2A:transcriptional adaptor 2A [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17q12
Genomic location:
Preferred name:
GRCh37/hg19 17q12(chr17:34822465-36283612)x3
HGVS:
NC_000017.10:g.(?_34822465)_(36283612_?)dup
Links:
dbVar: nssv13642256; dbVar: nssv3395198; dbVar: nsv995953
Observations:
2

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
SCV000183382ISCA site 1

See additional submitters

no assertion criteria providedLikely pathogenic
(Jan 21, 2015)
de novo, 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, with clinical assertions as classified by the original submitter.

SCV000183382

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000183382

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing
not providedde novoyes1not 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 1, SCV000183382.4

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

Last Updated: Aug 20, 2020

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