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GRCh38/hg38 7p22.1-21.3(chr7:6831253-8010127)x3 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 1, 2012
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:
RCV000138318.5

Allele description [Variation Report for GRCh38/hg38 7p22.1-21.3(chr7:6831253-8010127)x3]

GRCh38/hg38 7p22.1-21.3(chr7:6831253-8010127)x3

Genes:
  • LOC129997957:ATAC-STARR-seq lymphoblastoid active region 25635 [Gene]
  • LOC129997958:ATAC-STARR-seq lymphoblastoid active region 25636 [Gene]
  • LOC129997962:ATAC-STARR-seq lymphoblastoid active region 25638 [Gene]
  • LOC129997963:ATAC-STARR-seq lymphoblastoid active region 25639 [Gene]
  • LOC129997964:ATAC-STARR-seq lymphoblastoid active region 25640 [Gene]
  • LOC129997966:ATAC-STARR-seq lymphoblastoid active region 25641 [Gene]
  • LOC129997967:ATAC-STARR-seq lymphoblastoid active region 25642 [Gene]
  • LOC129997968:ATAC-STARR-seq lymphoblastoid active region 25643 [Gene]
  • LOC129997969:ATAC-STARR-seq lymphoblastoid active region 25644 [Gene]
  • LOC129997971:ATAC-STARR-seq lymphoblastoid active region 25645 [Gene]
  • LOC129997972:ATAC-STARR-seq lymphoblastoid active region 25646 [Gene]
  • LOC129997973:ATAC-STARR-seq lymphoblastoid active region 25647 [Gene]
  • LOC129997974:ATAC-STARR-seq lymphoblastoid active region 25648 [Gene]
  • LOC129997975:ATAC-STARR-seq lymphoblastoid active region 25649 [Gene]
  • LOC129997976:ATAC-STARR-seq lymphoblastoid active region 25650 [Gene]
  • LOC129997977:ATAC-STARR-seq lymphoblastoid active region 25651 [Gene]
  • LOC129997979:ATAC-STARR-seq lymphoblastoid active region 25652 [Gene]
  • LOC129997984:ATAC-STARR-seq lymphoblastoid active region 25653 [Gene]
  • LOC129997959:ATAC-STARR-seq lymphoblastoid silent region 17960 [Gene]
  • LOC129997960:ATAC-STARR-seq lymphoblastoid silent region 17961 [Gene]
  • LOC129997961:ATAC-STARR-seq lymphoblastoid silent region 17962 [Gene]
  • LOC129997965:ATAC-STARR-seq lymphoblastoid silent region 17963 [Gene]
  • LOC129997970:ATAC-STARR-seq lymphoblastoid silent region 17964 [Gene]
  • LOC129997978:ATAC-STARR-seq lymphoblastoid silent region 17965 [Gene]
  • LOC129997980:ATAC-STARR-seq lymphoblastoid silent region 17966 [Gene]
  • LOC129997981:ATAC-STARR-seq lymphoblastoid silent region 17967 [Gene]
  • LOC129997982:ATAC-STARR-seq lymphoblastoid silent region 17968 [Gene]
  • LOC129997983:ATAC-STARR-seq lymphoblastoid silent region 17969 [Gene]
  • LOC116183083:CRISPRi-validated cis-regulatory element chr7.922 [Gene]
  • LOC116183084:CRISPRi-validated cis-regulatory element chr7.924 [Gene]
  • GLCCI1-DT:GLCCI1 divergent transcript [Gene - HGNC]
  • MIOS-DT:MIOS divergent transcript [Gene - HGNC]
  • LOC129389734:MPRA-validated peak6360 silencer [Gene]
  • LOC132089504:Neanderthal introgressed variant-containing enhancer experimental_100048 [Gene]
  • LOC126859939:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:7478283-7479482 [Gene]
  • LOC121144504:Sharpr-MPRA regulatory region 12753 [Gene]
  • UMAD1:UBAP1-MVB12-associated (UMA) domain containing 1 [Gene - HGNC]
  • COL28A1:collagen type XXVIII alpha 1 chain [Gene - OMIM - HGNC]
  • C1GALT1:core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 [Gene - OMIM - HGNC]
  • GLCCI1:glucocorticoid induced 1 [Gene - OMIM - HGNC]
  • LINC03016:long intergenic non-protein coding RNA 3016 [Gene - HGNC]
  • MIOS:meiosis regulator for oocyte development [Gene - OMIM - HGNC]
  • MIR3683:microRNA 3683 [Gene - HGNC]
  • RPA3:replication protein A3 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7p22.1-21.3
Genomic location:
Preferred name:
GRCh38/hg38 7p22.1-21.3(chr7:6831253-8010127)x3
HGVS:
  • NC_000007.14:g.(?_6831253)_(8010127_?)dup
  • NC_000007.12:g.(?_6837409)_(8016282_?)dup
  • NC_000007.13:g.(?_6870884)_(8049757_?)dup
Links:
dbVar: nssv1495341; dbVar: nsv869530
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
SCV000178594ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Jun 1, 2012) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000178594.4

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

Last Updated: May 7, 2024