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GRCh38/hg38 4p14(chr4:39571714-40297938)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:
RCV000051597.6

Allele description [Variation Report for GRCh38/hg38 4p14(chr4:39571714-40297938)x3]

GRCh38/hg38 4p14(chr4:39571714-40297938)x3

Genes:
  • LOC129992457:ATAC-STARR-seq lymphoblastoid active region 21461 [Gene]
  • LOC129992458:ATAC-STARR-seq lymphoblastoid active region 21462 [Gene]
  • LOC129992459:ATAC-STARR-seq lymphoblastoid active region 21463 [Gene]
  • LOC129992460:ATAC-STARR-seq lymphoblastoid active region 21464 [Gene]
  • LOC129992461:ATAC-STARR-seq lymphoblastoid active region 21465 [Gene]
  • LOC129992463:ATAC-STARR-seq lymphoblastoid active region 21466 [Gene]
  • LOC129992464:ATAC-STARR-seq lymphoblastoid active region 21467 [Gene]
  • LOC129992465:ATAC-STARR-seq lymphoblastoid active region 21468 [Gene]
  • LOC129992467:ATAC-STARR-seq lymphoblastoid active region 21469 [Gene]
  • LOC129992468:ATAC-STARR-seq lymphoblastoid active region 21470 [Gene]
  • LOC129992473:ATAC-STARR-seq lymphoblastoid active region 21471 [Gene]
  • LOC129992474:ATAC-STARR-seq lymphoblastoid active region 21472 [Gene]
  • LOC129992475:ATAC-STARR-seq lymphoblastoid active region 21473 [Gene]
  • LOC129992477:ATAC-STARR-seq lymphoblastoid active region 21474 [Gene]
  • LOC129992478:ATAC-STARR-seq lymphoblastoid active region 21475 [Gene]
  • LOC129992479:ATAC-STARR-seq lymphoblastoid active region 21476 [Gene]
  • LOC129992480:ATAC-STARR-seq lymphoblastoid active region 21477 [Gene]
  • LOC129992481:ATAC-STARR-seq lymphoblastoid active region 21478 [Gene]
  • LOC129992482:ATAC-STARR-seq lymphoblastoid active region 21479 [Gene]
  • LOC129992483:ATAC-STARR-seq lymphoblastoid active region 21480 [Gene]
  • LOC129992484:ATAC-STARR-seq lymphoblastoid active region 21481 [Gene]
  • LOC129992462:ATAC-STARR-seq lymphoblastoid silent region 15371 [Gene]
  • LOC129992466:ATAC-STARR-seq lymphoblastoid silent region 15372 [Gene]
  • LOC129992469:ATAC-STARR-seq lymphoblastoid silent region 15374 [Gene]
  • LOC129992470:ATAC-STARR-seq lymphoblastoid silent region 15375 [Gene]
  • LOC129992471:ATAC-STARR-seq lymphoblastoid silent region 15376 [Gene]
  • LOC129992472:ATAC-STARR-seq lymphoblastoid silent region 15377 [Gene]
  • LOC129992476:ATAC-STARR-seq lymphoblastoid silent region 15378 [Gene]
  • LOC129389209:MPRA-validated peak5027 silencer [Gene]
  • N4BP2:NEDD4 binding protein 2 [Gene - OMIM - HGNC]
  • LOC126807038:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:40252200-40253399 [Gene]
  • PDS5A:PDS5 cohesin associated factor A [Gene - OMIM - HGNC]
  • SMIM14-DT:SMIM14 divergent transcript [Gene - HGNC]
  • LOC123477730:Sharpr-MPRA regulatory region 4409 [Gene]
  • UGDH-AS1:UGDH antisense RNA 1 [Gene - HGNC]
  • RHOH:ras homolog family member H [Gene - OMIM - HGNC]
  • SMIM14:small integral membrane protein 14 [Gene - HGNC]
  • UBE2K:ubiquitin conjugating enzyme E2 K [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
4p14
Genomic location:
Preferred name:
GRCh38/hg38 4p14(chr4:39571714-40297938)x3
HGVS:
  • NC_000004.12:g.(?_39571714)_(40297938_?)dup
  • NC_000004.10:g.(?_39249729)_(39994730_?)dup
  • NC_000004.11:g.(?_39573334)_(40299955_?)dup
Links:
dbVar: nssv581157; dbVar: nsv530120
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
SCV000078945ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not 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, SCV000078945.5

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

Last Updated: May 7, 2024