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GRCh38/hg38 7p15.3(chr7:22486980-23176403)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 18, 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:
RCV000134148.6

Allele description [Variation Report for GRCh38/hg38 7p15.3(chr7:22486980-23176403)x3]

GRCh38/hg38 7p15.3(chr7:22486980-23176403)x3

Genes:
  • LOC129998059:ATAC-STARR-seq lymphoblastoid active region 25712 [Gene]
  • LOC129998060:ATAC-STARR-seq lymphoblastoid active region 25713 [Gene]
  • LOC129998062:ATAC-STARR-seq lymphoblastoid active region 25714 [Gene]
  • LOC129998063:ATAC-STARR-seq lymphoblastoid active region 25715 [Gene]
  • LOC129998057:ATAC-STARR-seq lymphoblastoid silent region 18003 [Gene]
  • LOC129998058:ATAC-STARR-seq lymphoblastoid silent region 18004 [Gene]
  • LOC129998061:ATAC-STARR-seq lymphoblastoid silent region 18005 [Gene]
  • LOC126859963:BRD4-independent group 4 enhancer GRCh37_chr7:22766269-22767468 [Gene]
  • LOC126859964:BRD4-independent group 4 enhancer GRCh37_chr7:22898129-22899328 [Gene]
  • LOC108254689:CAGE-defined low expression enhancer in LOC100506178-LOC401312 intergenic region [Gene]
  • LOC116183086:CRISPRi-validated cis-regulatory element chr7.1154 [Gene]
  • LOC116183087:CRISPRi-validated cis-regulatory element chr7.1155 [Gene]
  • IL6-AS1:IL6 antisense RNA 1 [Gene - HGNC]
  • KLHL7-DT:KLHL7 divergent transcript [Gene - HGNC]
  • LOC126859965:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:23060419-23061618 [Gene]
  • STEAP1B:STEAP family member 1B [Gene - HGNC]
  • STEAP1B-AS1:STEAP1B antisense RNA 1 [Gene - HGNC]
  • LOC123924917:Sharpr-MPRA regulatory region 4516 [Gene]
  • HYCC1:hyccin PI4KA lipid kinase complex subunit 1 [Gene - OMIM - HGNC]
  • IL6:interleukin 6 [Gene - OMIM - HGNC]
  • KLHL7:kelch like family member 7 [Gene - OMIM - HGNC]
  • SNHG26:small nucleolar RNA host gene 26 [Gene - HGNC]
  • SNORD93:small nucleolar RNA, C/D box 93 [Gene - HGNC]
  • TOMM7:translocase of outer mitochondrial membrane 7 [Gene - OMIM - HGNC]
  • LOC401312:uncharacterized LOC401312 [Gene]
Variant type:
copy number gain
Cytogenetic location:
7p15.3
Genomic location:
Preferred name:
GRCh38/hg38 7p15.3(chr7:22486980-23176403)x3
HGVS:
  • NC_000007.14:g.(?_22486980)_(23176403_?)dup
  • NC_000007.12:g.(?_22493124)_(23182547_?)dup
  • NC_000007.13:g.(?_22526599)_(23216022_?)dup
Links:
dbVar: nssv576319; dbVar: nsv492247
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
SCV000173649ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Aug 18, 2010) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000173649.4

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

Last Updated: May 7, 2024