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GRCh38/hg38 7p22.1(chr7:5171797-5480926)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:
RCV000135371.3

Allele description [Variation Report for GRCh38/hg38 7p22.1(chr7:5171797-5480926)x3]

GRCh38/hg38 7p22.1(chr7:5171797-5480926)x3

Genes:
  • LOC129997874:ATAC-STARR-seq lymphoblastoid active region 25574 [Gene]
  • LOC129997876:ATAC-STARR-seq lymphoblastoid active region 25575 [Gene]
  • LOC129997879:ATAC-STARR-seq lymphoblastoid active region 25576 [Gene]
  • LOC129997871:ATAC-STARR-seq lymphoblastoid silent region 17908 [Gene]
  • LOC129997872:ATAC-STARR-seq lymphoblastoid silent region 17909 [Gene]
  • LOC129997873:ATAC-STARR-seq lymphoblastoid silent region 17910 [Gene]
  • LOC129997875:ATAC-STARR-seq lymphoblastoid silent region 17911 [Gene]
  • LOC129997877:ATAC-STARR-seq lymphoblastoid silent region 17912 [Gene]
  • LOC129997878:ATAC-STARR-seq lymphoblastoid silent region 17913 [Gene]
  • LOC129997880:ATAC-STARR-seq lymphoblastoid silent region 17914 [Gene]
  • LOC126859936:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:5257932-5259131 [Gene]
  • FBXL18:F-box and leucine rich repeat protein 18 [Gene - OMIM - HGNC]
  • LOC129389732:MPRA-validated peak6354 silencer [Gene]
  • LOC121144502:Sharpr-MPRA regulatory region 13937 [Gene]
  • LOC123924896:Sharpr-MPRA regulatory region 3727 [Gene]
  • LOC123924895:Sharpr-MPRA regulatory region 9837 [Gene]
  • WIPI2:WD repeat domain, phosphoinositide interacting 2 [Gene - OMIM - HGNC]
  • LINC02983:long intergenic non-protein coding RNA 2983 [Gene - HGNC]
  • LINC03073:long intergenic non-protein coding RNA 3073 [Gene - HGNC]
  • SLC29A4:solute carrier family 29 member 4 [Gene - OMIM - HGNC]
  • TNRC18:trinucleotide repeat containing 18 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7p22.1
Genomic location:
Preferred name:
GRCh38/hg38 7p22.1(chr7:5171797-5480926)x3
HGVS:
  • NC_000007.14:g.(?_5171797)_(5480926_?)dup
  • NC_000007.13:g.(?_5211428)_(5520557_?)dup
Links:
dbVar: nssv585278; dbVar: nsv498558
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
SCV000175051GeneDx
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, SCV000175051.3

#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