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GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 5, 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:
RCV000135929.6

Allele description [Variation Report for GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3]

GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3

Genes:
  • LOC129998672:ATAC-STARR-seq lymphoblastoid active region 26178 [Gene]
  • LOC129998673:ATAC-STARR-seq lymphoblastoid active region 26179 [Gene]
  • LOC129998675:ATAC-STARR-seq lymphoblastoid active region 26180 [Gene]
  • LOC129998677:ATAC-STARR-seq lymphoblastoid active region 26181 [Gene]
  • LOC129998678:ATAC-STARR-seq lymphoblastoid active region 26182 [Gene]
  • LOC129998679:ATAC-STARR-seq lymphoblastoid active region 26183 [Gene]
  • LOC129998681:ATAC-STARR-seq lymphoblastoid active region 26184 [Gene]
  • LOC129998682:ATAC-STARR-seq lymphoblastoid active region 26185 [Gene]
  • LOC129998683:ATAC-STARR-seq lymphoblastoid active region 26186 [Gene]
  • LOC129998684:ATAC-STARR-seq lymphoblastoid active region 26187 [Gene]
  • LOC129998687:ATAC-STARR-seq lymphoblastoid active region 26188 [Gene]
  • LOC129998688:ATAC-STARR-seq lymphoblastoid active region 26191 [Gene]
  • LOC129998689:ATAC-STARR-seq lymphoblastoid active region 26192 [Gene]
  • LOC129998691:ATAC-STARR-seq lymphoblastoid active region 26193 [Gene]
  • LOC129998694:ATAC-STARR-seq lymphoblastoid active region 26194 [Gene]
  • LOC129998695:ATAC-STARR-seq lymphoblastoid active region 26195 [Gene]
  • LOC129998697:ATAC-STARR-seq lymphoblastoid active region 26197 [Gene]
  • LOC129998700:ATAC-STARR-seq lymphoblastoid active region 26200 [Gene]
  • LOC129998674:ATAC-STARR-seq lymphoblastoid silent region 18298 [Gene]
  • LOC129998676:ATAC-STARR-seq lymphoblastoid silent region 18299 [Gene]
  • LOC129998680:ATAC-STARR-seq lymphoblastoid silent region 18302 [Gene]
  • LOC129998685:ATAC-STARR-seq lymphoblastoid silent region 18303 [Gene]
  • LOC129998686:ATAC-STARR-seq lymphoblastoid silent region 18304 [Gene]
  • LOC129998690:ATAC-STARR-seq lymphoblastoid silent region 18306 [Gene]
  • LOC129998692:ATAC-STARR-seq lymphoblastoid silent region 18307 [Gene]
  • LOC129998693:ATAC-STARR-seq lymphoblastoid silent region 18308 [Gene]
  • LOC129998696:ATAC-STARR-seq lymphoblastoid silent region 18310 [Gene]
  • LOC129998698:ATAC-STARR-seq lymphoblastoid silent region 18315 [Gene]
  • LOC129998699:ATAC-STARR-seq lymphoblastoid silent region 18316 [Gene]
  • CCL24:C-C motif chemokine ligand 24 [Gene - OMIM - HGNC]
  • CCL26:C-C motif chemokine ligand 26 [Gene - OMIM - HGNC]
  • LOC126860075:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286 [Gene]
  • LOC116183091:CRISPRi-validated cis-regulatory element chr7.2946 [Gene]
  • LOC129389814:MPRA-validated peak6604 silencer [Gene]
  • LOC129389815:MPRA-validated peak6610 silencer [Gene]
  • LOC129389816:MPRA-validated peak6611 silencer [Gene]
  • POMZP3:POM121 and ZP3 fusion [Gene - OMIM - HGNC]
  • LOC121740687:Sharpr-MPRA regulatory region 1050 [Gene]
  • LOC121740688:Sharpr-MPRA regulatory region 10512 [Gene]
  • LOC123956170:Sharpr-MPRA regulatory region 11180 [Gene]
  • LOC123956169:Sharpr-MPRA regulatory region 1121 [Gene]
  • LOC123956166:Sharpr-MPRA regulatory region 12151 [Gene]
  • LOC123956165:Sharpr-MPRA regulatory region 13243 [Gene]
  • LOC121175347:Sharpr-MPRA regulatory region 14050 [Gene]
  • LOC123956167:Sharpr-MPRA regulatory region 2709 [Gene]
  • LOC123956168:Sharpr-MPRA regulatory region 3792 [Gene]
  • LOC113748413:Sharpr-MPRA regulatory region 5015 [Gene]
  • LOC113748414:Sharpr-MPRA regulatory region 7220 [Gene]
  • LOC123956171:Sharpr-MPRA regulatory region 8731 [Gene]
  • POR:cytochrome p450 oxidoreductase [Gene - OMIM - HGNC]
  • DTX2:deltex E3 ubiquitin ligase 2 [Gene - OMIM - HGNC]
  • FPASL:fibroblast proliferation associated lncRNA [Gene - HGNC]
  • HSPB1:heat shock protein family B (small) member 1 [Gene - OMIM - HGNC]
  • HIP1:huntingtin interacting protein 1 [Gene - OMIM - HGNC]
  • LINC03009:long intergenic non-protein coding RNA 3009 [Gene - HGNC]
  • MDH2:malate dehydrogenase 2 [Gene - OMIM - HGNC]
  • MIR4651:microRNA 4651 [Gene - HGNC]
  • RHBDD2:rhomboid domain containing 2 [Gene - OMIM - HGNC]
  • SSC4D:scavenger receptor cysteine rich family member with 4 domains [Gene - OMIM - HGNC]
  • SRRM3:serine/arginine repetitive matrix 3 [Gene - HGNC]
  • STYXL1:serine/threonine/tyrosine interacting like 1 [Gene - OMIM - HGNC]
  • SNORA14A:small nucleolar RNA, H/ACA box 14A [Gene - HGNC]
  • SPDYE16:speedy/RINGO cell cycle regulator family member E16 [Gene - HGNC]
  • TMEM120A:transmembrane protein 120A [Gene - OMIM - HGNC]
  • YWHAG:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma [Gene - OMIM - HGNC]
  • UPK3B:uroplakin 3B [Gene - OMIM - HGNC]
  • ZP3:zona pellucida glycoprotein 3 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7q11.23
Genomic location:
Preferred name:
GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3
HGVS:
  • NC_000007.14:g.(?_75529854)_(76626561_?)dup
  • NC_000007.12:g.(?_74997116)_(76093814_?)dup
  • NC_000007.13:g.(?_75159180)_(76255878_?)dup
Links:
dbVar: nssv706481; dbVar: nsv533219
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
SCV000175946ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Aug 5, 2011) 		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, SCV000175946.4

#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