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GRCh38/hg38 4q28.2(chr4:128856871-128983901)x3 AND See cases

Germline classification:
Benign/Likely benign (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:
RCV000134274.4

Allele description [Variation Report for GRCh38/hg38 4q28.2(chr4:128856871-128983901)x3]

GRCh38/hg38 4q28.2(chr4:128856871-128983901)x3

Genes:
LOC129993079:ATAC-STARR-seq lymphoblastoid active region 21899 [Gene]
LOC129993080:ATAC-STARR-seq lymphoblastoid active region 21900 [Gene]
LOC129993081:ATAC-STARR-seq lymphoblastoid active region 21901 [Gene]
JADE1:jade family PHD finger 1 [Gene - OMIM - HGNC]
SCLT1:sodium channel and clathrin linker 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
4q28.2
Genomic location:
Preferred name:
GRCh38/hg38 4q28.2(chr4:128856871-128983901)x3
HGVS:
  • NC_000004.12:g.(?_128856871)_(128983901_?)dup
  • NC_000004.11:g.(?_129778026)_(129905056_?)dup
Links:
dbVar: nssv583376; dbVar: nssv585119; dbVar: nsv497337
Observations:
2

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
SCV000173810GeneDx
no assertion criteria provided
Benign/Likely benign
(Nov 30, 2010) 		not providedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000173810.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided

Description

Likely benign (1), Benign (1)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided
2not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023