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GRCh38/hg38 7p22.3(chr7:890905-990730)x3 AND See cases

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 30, 2011
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:
RCV000140279.3

Allele description [Variation Report for GRCh38/hg38 7p22.3(chr7:890905-990730)x3]

GRCh38/hg38 7p22.3(chr7:890905-990730)x3

Genes:
  • LOC129997743:ATAC-STARR-seq lymphoblastoid active region 25477 [Gene]
  • LOC129997745:ATAC-STARR-seq lymphoblastoid active region 25478 [Gene]
  • LOC129997746:ATAC-STARR-seq lymphoblastoid active region 25479 [Gene]
  • LOC129997747:ATAC-STARR-seq lymphoblastoid active region 25480 [Gene]
  • LOC129997749:ATAC-STARR-seq lymphoblastoid active region 25481 [Gene]
  • LOC129997754:ATAC-STARR-seq lymphoblastoid active region 25482 [Gene]
  • LOC129997742:ATAC-STARR-seq lymphoblastoid silent region 17825 [Gene]
  • LOC129997744:ATAC-STARR-seq lymphoblastoid silent region 17826 [Gene]
  • LOC129997748:ATAC-STARR-seq lymphoblastoid silent region 17827 [Gene]
  • LOC129997750:ATAC-STARR-seq lymphoblastoid silent region 17828 [Gene]
  • LOC129997751:ATAC-STARR-seq lymphoblastoid silent region 17829 [Gene]
  • LOC129997752:ATAC-STARR-seq lymphoblastoid silent region 17830 [Gene]
  • LOC129997753:ATAC-STARR-seq lymphoblastoid silent region 17832 [Gene]
  • LOC129997755:ATAC-STARR-seq lymphoblastoid silent region 17835 [Gene]
  • ADAP1:ArfGAP with dual PH domains 1 [Gene - OMIM - HGNC]
  • LOC121740675:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:984861-986060 [Gene]
  • C7orf50:chromosome 7 open reading frame 50 [Gene - HGNC]
  • CYP2W1:cytochrome P450 family 2 subfamily W member 1 [Gene - OMIM - HGNC]
  • COX19:cytochrome c oxidase assembly factor COX19 [Gene - OMIM - HGNC]
  • GET4:guided entry of tail-anchored proteins factor 4 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7p22.3
Genomic location:
Preferred name:
GRCh38/hg38 7p22.3(chr7:890905-990730)x3
HGVS:
  • NC_000007.14:g.(?_890905)_(990730_?)dup
  • NC_000007.13:g.(?_930542)_(1030366_?)dup
Links:
dbVar: nssv1609433; dbVar: nsv931461
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
SCV000180959GeneDx
no assertion criteria provided
Benign
(Apr 30, 2011) 		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, SCV000180959.3

#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