GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, 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:
RCV000052059.5

Allele description [Variation Report for GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3]

GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3

Genes:
  • LOC130055587:ATAC-STARR-seq lymphoblastoid active region 8353 [Gene]
  • LOC130055589:ATAC-STARR-seq lymphoblastoid active region 8354 [Gene]
  • LOC130055592:ATAC-STARR-seq lymphoblastoid active region 8355 [Gene]
  • LOC130055593:ATAC-STARR-seq lymphoblastoid active region 8356 [Gene]
  • LOC130055594:ATAC-STARR-seq lymphoblastoid active region 8357 [Gene]
  • LOC130055595:ATAC-STARR-seq lymphoblastoid active region 8358 [Gene]
  • LOC130055596:ATAC-STARR-seq lymphoblastoid active region 8359 [Gene]
  • LOC130055598:ATAC-STARR-seq lymphoblastoid active region 8360 [Gene]
  • LOC130055599:ATAC-STARR-seq lymphoblastoid active region 8361 [Gene]
  • LOC130055602:ATAC-STARR-seq lymphoblastoid active region 8362 [Gene]
  • LOC130055603:ATAC-STARR-seq lymphoblastoid active region 8363 [Gene]
  • LOC130055604:ATAC-STARR-seq lymphoblastoid active region 8364 [Gene]
  • LOC130055605:ATAC-STARR-seq lymphoblastoid active region 8365 [Gene]
  • LOC130055606:ATAC-STARR-seq lymphoblastoid active region 8366 [Gene]
  • LOC130055607:ATAC-STARR-seq lymphoblastoid active region 8367 [Gene]
  • LOC130055609:ATAC-STARR-seq lymphoblastoid active region 8368 [Gene]
  • LOC130055610:ATAC-STARR-seq lymphoblastoid active region 8369 [Gene]
  • LOC130055612:ATAC-STARR-seq lymphoblastoid active region 8370 [Gene]
  • LOC130055620:ATAC-STARR-seq lymphoblastoid active region 8371 [Gene]
  • LOC130055621:ATAC-STARR-seq lymphoblastoid active region 8373 [Gene]
  • LOC130055622:ATAC-STARR-seq lymphoblastoid active region 8374 [Gene]
  • LOC130055588:ATAC-STARR-seq lymphoblastoid silent region 5718 [Gene]
  • LOC130055590:ATAC-STARR-seq lymphoblastoid silent region 5720 [Gene]
  • LOC130055591:ATAC-STARR-seq lymphoblastoid silent region 5721 [Gene]
  • LOC130055597:ATAC-STARR-seq lymphoblastoid silent region 5723 [Gene]
  • LOC130055600:ATAC-STARR-seq lymphoblastoid silent region 5725 [Gene]
  • LOC130055601:ATAC-STARR-seq lymphoblastoid silent region 5726 [Gene]
  • LOC130055608:ATAC-STARR-seq lymphoblastoid silent region 5727 [Gene]
  • LOC130055611:ATAC-STARR-seq lymphoblastoid silent region 5728 [Gene]
  • LOC130055613:ATAC-STARR-seq lymphoblastoid silent region 5729 [Gene]
  • LOC130055614:ATAC-STARR-seq lymphoblastoid silent region 5730 [Gene]
  • LOC130055615:ATAC-STARR-seq lymphoblastoid silent region 5731 [Gene]
  • LOC130055616:ATAC-STARR-seq lymphoblastoid silent region 5732 [Gene]
  • LOC130055617:ATAC-STARR-seq lymphoblastoid silent region 5733 [Gene]
  • LOC130055618:ATAC-STARR-seq lymphoblastoid silent region 5734 [Gene]
  • LOC130055619:ATAC-STARR-seq lymphoblastoid silent region 5735 [Gene]
  • LOC130055623:ATAC-STARR-seq lymphoblastoid silent region 5737 [Gene]
  • LOC130055624:ATAC-STARR-seq lymphoblastoid silent region 5738 [Gene]
  • LOC130055625:ATAC-STARR-seq lymphoblastoid silent region 5739 [Gene]
  • LOC130055626:ATAC-STARR-seq lymphoblastoid silent region 5740 [Gene]
  • LOC126861936:BRD4-independent group 4 enhancer GRCh37_chr14:51210620-51211819 [Gene]
  • LOC126861937:BRD4-independent group 4 enhancer GRCh37_chr14:51376986-51378185 [Gene]
  • LOC126861938:BRD4-independent group 4 enhancer GRCh37_chr14:51495109-51496308 [Gene]
  • LOC126861939:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:51862502-51863701 [Gene]
  • FRMD6:FERM domain containing 6 [Gene - OMIM - HGNC]
  • FRMD6-AS1:FRMD6 antisense RNA 1 [Gene - HGNC]
  • FRMD6-AS2:FRMD6 antisense RNA 2 [Gene - HGNC]
  • L2HGDH:L-2-hydroxyglutarate dehydrogenase [Gene - OMIM - HGNC]
  • LOC112268480:MED14-independent group 3 enhancer GRCh37_chr14:52000910-52002109 [Gene]
  • LOC129390630:MPRA-validated peak2154 silencer [Gene]
  • LOC108281122:PYGL intron CAGE-defined low expression enhancer [Gene]
  • SOS2:SOS Ras/Rho guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
  • LOC121468013:Sharpr-MPRA regulatory region 14884 [Gene]
  • LOC125024481:Sharpr-MPRA regulatory region 6562 [Gene]
  • ABHD12B:abhydrolase domain containing 12B [Gene - HGNC]
  • ATL1:atlastin GTPase 1 [Gene - OMIM - HGNC]
  • CDKL1:cyclin dependent kinase like 1 [Gene - OMIM - HGNC]
  • DMAC2L:distal membrane arm assembly component 2 like [Gene - OMIM - HGNC]
  • PYGL:glycogen phosphorylase L [Gene - OMIM - HGNC]
  • LINC01599:long intergenic non-protein coding RNA 1599 [Gene - HGNC]
  • LINC02310:long intergenic non-protein coding RNA 2310 [Gene - HGNC]
  • LINC00519:long intergenic non-protein coding RNA 519 [Gene - HGNC]
  • LINC00640:long intergenic non-protein coding RNA 640 [Gene - HGNC]
  • MIR4504:microRNA 4504 [Gene - HGNC]
  • MAP4K5:mitogen-activated protein kinase kinase kinase kinase 5 [Gene - OMIM - HGNC]
  • NIN:ninein [Gene - OMIM - HGNC]
  • SAV1:salvador family WW domain containing protein 1 [Gene - OMIM - HGNC]
  • TMX1:thioredoxin related transmembrane protein 1 [Gene - OMIM - HGNC]
  • TRIM9:tripartite motif containing 9 [Gene - OMIM - HGNC]
  • LOC105370489:uncharacterized LOC105370489 [Gene]
  • LOC400212:uncharacterized LOC400212 [Gene]
  • VCPKMT:valosin containing protein lysine methyltransferase [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
14q21.3-22.1
Genomic location:
Preferred name:
GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3
HGVS:
  • NC_000014.9:g.(?_50091150)_(51777325_?)dup
  • NC_000014.7:g.(?_49627618)_(51313793_?)dup
  • NC_000014.8:g.(?_50557868)_(52244043_?)dup
Links:
dbVar: nssv580841; dbVar: nsv530772
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
SCV000079408ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		not providedclinical testing

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

Help

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, SCV000079408.5

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

Last Updated: Oct 14, 2023