GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 29, 2011)

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:
RCV000137731.3

Allele description [Variation Report for GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3]

GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3

Genes:
  • ABHD11-AS1:ABHD11 antisense RNA 1 (tail to tail) [Gene - OMIM - HGNC]
  • BCL7B:BAF chromatin remodeling complex subunit BCL7B [Gene - OMIM - HGNC]
  • BUD23:BUD23 rRNA methyltransferase and ribosome maturation factor [Gene - OMIM - HGNC]
  • LOC108254673:CAGE-defined high expression enhancer upstream of GTF2IRD1 [Gene]
  • CLIP2:CAP-Gly domain containing linker protein 2 [Gene - OMIM - HGNC]
  • DNAJC30:DnaJ heat shock protein family (Hsp40) member C30 [Gene - OMIM - HGNC]
  • ELN-AS1:ELN antisense RNA 1 [Gene - HGNC]
  • FKBP6:FKBP prolyl isomerase family member 6 (inactive) [Gene - OMIM - HGNC]
  • GTF2I-AS1:GTF2I antisense RNA 1 [Gene - HGNC]
  • GTF2IRD1:GTF2I repeat domain containing 1 [Gene - OMIM - HGNC]
  • GTF2IRD2:GTF2I repeat domain containing 2 [Gene - OMIM - HGNC]
  • GTF2IRD2B:GTF2I repeat domain containing 2B [Gene - OMIM - HGNC]
  • LIMK1:LIM domain kinase 1 [Gene - OMIM - HGNC]
  • MLXIPL:MLX interacting protein like [Gene - OMIM - HGNC]
  • LOC111413044:NFE2L2 motif-containing MPRA enhancer 193 [Gene]
  • NSUN5:NOP2/Sun RNA methyltransferase 5 [Gene - OMIM - HGNC]
  • RCC1L:RCC1 like [Gene - HGNC]
  • LOC121175345:Sharpr-MPRA regulatory region 11638 [Gene]
  • LOC113748411:Sharpr-MPRA regulatory region 11846 [Gene]
  • LOC113748409:Sharpr-MPRA regulatory region 14121 [Gene]
  • LOC113748410:Sharpr-MPRA regulatory region 6518 [Gene]
  • LOC113748408:Sharpr-MPRA regulatory region 8580 [Gene]
  • LOC113748407:Sharpr-MPRA regulatory region 8994 [Gene]
  • LOC121175346:Sharpr-MPRA regulatory region 9451 [Gene]
  • VPS37D:VPS37D subunit of ESCRT-I [Gene - OMIM - HGNC]
  • LOC106029311:Williams-Beuren syndrome centromeric block B recombination region [Gene]
  • LOC106029312:Williams-Beuren syndrome medial block B recombination region [Gene]
  • LOC106029313:Williams-Beuren syndrome telomeric block B recombination region [Gene]
  • ABHD11:abhydrolase domain containing 11 [Gene - HGNC]
  • BAZ1B:bromodomain adjacent to zinc finger domain 1B [Gene - OMIM - HGNC]
  • CLDN3:claudin 3 [Gene - OMIM - HGNC]
  • CLDN4:claudin 4 [Gene - OMIM - HGNC]
  • CASTOR2:cytosolic arginine sensor for mTORC1 subunit 2 [Gene - OMIM - HGNC]
  • ELN:elastin [Gene - OMIM - HGNC]
  • EIF4H:eukaryotic translation initiation factor 4H [Gene - OMIM - HGNC]
  • FZD9:frizzled class receptor 9 [Gene - OMIM - HGNC]
  • GTF2I:general transcription factor IIi [Gene - OMIM - HGNC]
  • LAT2:linker for activation of T cells family member 2 [Gene - OMIM - HGNC]
  • METTL27:methyltransferase like 27 [Gene - OMIM - HGNC]
  • MIR10525:microRNA 10525 [Gene - HGNC]
  • MIR4284:microRNA 4284 [Gene - HGNC]
  • MIR590:microRNA 590 [Gene - OMIM - HGNC]
  • NCF1:neutrophil cytosolic factor 1 [Gene - OMIM - HGNC]
  • RFC2:replication factor C subunit 2 [Gene - OMIM - HGNC]
  • SPDYE10P:speedy/RINGO cell cycle regulator family member E10, pseudogene [Gene - HGNC]
  • SPDYE11:speedy/RINGO cell cycle regulator family member E11 [Gene - HGNC]
  • SPDYE12P:speedy/RINGO cell cycle regulator family member E12, pseudogene [Gene - HGNC]
  • SPDYE14:speedy/RINGO cell cycle regulator family member E14 [Gene - HGNC]
  • SPDYE9:speedy/RINGO cell cycle regulator family member E9 [Gene - HGNC]
  • STX1A:syntaxin 1A [Gene - OMIM - HGNC]
  • TBL2:transducin beta like 2 [Gene - OMIM - HGNC]
  • TMEM270:transmembrane protein 270 [Gene - OMIM - HGNC]
  • TRIM50:tripartite motif containing 50 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7q11.23
Genomic location:
Preferred name:
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3
HGVS:
  • NC_000007.14:g.(?_73040501)_(75255046_?)dup
  • NC_000007.12:g.(?_72635638)_(74904285_?)dup
Note:
When NCBI calculated the location of this variant on an assembly more recent than the one on which the variant was originally described, there were multiple placements. This suggests the variant falls within a region of the genome that changed significantly between assemblies. We present the highest-scoring placement here; however the variant's location should be interpreted with caution.
Links:
dbVar: nssv1494894; dbVar: nsv868907
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
SCV000177978ISCA site 1

See additional submitters

no assertion criteria providedPathogenic
(Aug 29, 2011)
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.

SCV000177978

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/].

SCV000177978

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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

Details of each submission

From ISCA site 1, SCV000177978.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 19, 2021

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