GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000051178.5

Allele description [Variation Report for GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3]

GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3

Genes:
  • NT5C3A:5'-nucleotidase, cytosolic IIIA [Gene - OMIM - HGNC]
  • ADCYAP1R1:ADCYAP receptor type I [Gene - OMIM - HGNC]
  • AVL9:AVL9 cell migration associated [Gene - OMIM - HGNC]
  • BMPER:BMP binding endothelial regulator [Gene - OMIM - HGNC]
  • BBS9:Bardet-Biedl syndrome 9 [Gene - OMIM - HGNC]
  • DPY19L1P2:DPY19L1 pseudogene 2 [Gene]
  • FKBP9:FK506 binding protein 9 [Gene - OMIM - HGNC]
  • INMT-FAM188B:INMT-FAM188B readthrough (NMD candidate) [Gene - HGNC]
  • LSM5:LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated [Gene - OMIM - HGNC]
  • NPSR1-AS1:NPSR1 antisense RNA 1 [Gene - OMIM - HGNC]
  • AQP1:aquaporin 1 (Colton blood group) [Gene - OMIM - HGNC]
  • CCDC129:coiled-coil domain containing 129 [Gene - HGNC]
  • CRHR2:corticotropin releasing hormone receptor 2 [Gene - OMIM - HGNC]
  • FAM188B:family with sequence similarity 188 member B [Gene - HGNC]
  • GGCT:gamma-glutamylcyclotransferase [Gene - OMIM - HGNC]
  • GARS:glycyl-tRNA synthetase [Gene - OMIM - HGNC]
  • GHRHR:growth hormone releasing hormone receptor [Gene - OMIM - HGNC]
  • INMT:indolethylamine N-methyltransferase [Gene - OMIM - HGNC]
  • KBTBD2:kelch repeat and BTB domain containing 2 [Gene - HGNC]
  • LINC00997:long intergenic non-protein coding RNA 997 [Gene - HGNC]
  • MIR550A2:microRNA 550a-2 [Gene - HGNC]
  • MIR550B2:microRNA 550b-2 [Gene - HGNC]
  • NEUROD6:neuronal differentiation 6 [Gene - OMIM - HGNC]
  • NOD1:nucleotide binding oligomerization domain containing 1 [Gene - OMIM - HGNC]
  • PDE1C:phosphodiesterase 1C [Gene - OMIM - HGNC]
  • PPP1R17:protein phosphatase 1 regulatory subunit 17 [Gene - OMIM - HGNC]
  • RP9:retinitis pigmentosa 9 (autosomal dominant) [Gene - OMIM - HGNC]
  • LOC401320:uncharacterized LOC401320 [Gene]
Variant type:
copy number gain
Cytogenetic location:
7p14.3
Genomic location:
Preferred name:
GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3
HGVS:
  • NC_000007.14:g.(?_30420933)_(34560665_?)dup
  • NC_000007.12:g.(?_30427074)_(34566802_?)dup
  • NC_000007.13:g.(?_30460549)_(34600277_?)dup
Links:
dbVar: nssv577104; dbVar: nsv529721
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
SCV000078522ISCA site 4

See additional submitters

criteria provided, single submitter
(Submitter's publication)
Pathogenic
(Aug 12, 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. Clinical assertions have been curated as described in Kaminsky et al. 2011.

SCV000078522

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not 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 4, SCV000078522.5

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

Last Updated: Jun 7, 2016