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GRCh38/hg38 4q28.2-28.3(chr4:129082327-130146999)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 30, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000135361.3

Allele description [Variation Report for GRCh38/hg38 4q28.2-28.3(chr4:129082327-130146999)x3]

GRCh38/hg38 4q28.2-28.3(chr4:129082327-130146999)x3

Genes:
  • LOC129993082:ATAC-STARR-seq lymphoblastoid active region 21902 [Gene]
  • LOC126807155:MED14-independent group 3 enhancer GRCh37_chr4:130504726-130505925 [Gene]
  • LOC126807156:MED14-independent group 3 enhancer GRCh37_chr4:130972816-130974015 [Gene]
  • LOC132089032:Neanderthal introgressed variant-containing enhancer experimental_74204 [Gene]
  • LOC132089033:Neanderthal introgressed variant-containing enhancer experimental_74235 [Gene]
  • LOC132089034:Neanderthal introgressed variant-containing enhancer experimental_74251 [Gene]
  • LOC132089035:Neanderthal introgressed variant-containing enhancer experimental_74277 [Gene]
  • C4orf33:chromosome 4 open reading frame 33 [Gene - HGNC]
  • LINC02465:long intergenic non-protein coding RNA 2465 [Gene - HGNC]
  • LINC02466:long intergenic non-protein coding RNA 2466 [Gene - HGNC]
  • SCLT1:sodium channel and clathrin linker 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
4q28.2-28.3
Genomic location:
Preferred name:
GRCh38/hg38 4q28.2-28.3(chr4:129082327-130146999)x3
HGVS:
  • NC_000004.12:g.(?_129082327)_(130146999_?)dup
  • NC_000004.11:g.(?_130003482)_(131068154_?)dup
Links:
dbVar: nssv585263; dbVar: nsv498544
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
SCV000175041GeneDx
no assertion criteria provided
Uncertain significance
(Nov 30, 2010) 		not providedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000175041.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023