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GRCh38/hg38 6q15(chr6:89007799-89705596)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 26, 2013
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:
RCV000142025.5

Allele description [Variation Report for GRCh38/hg38 6q15(chr6:89007799-89705596)x3]

GRCh38/hg38 6q15(chr6:89007799-89705596)x3

Genes:
  • LOC129996813:ATAC-STARR-seq lymphoblastoid active region 24818 [Gene]
  • LOC129996817:ATAC-STARR-seq lymphoblastoid active region 24819 [Gene]
  • LOC129996820:ATAC-STARR-seq lymphoblastoid active region 24820 [Gene]
  • LOC129996822:ATAC-STARR-seq lymphoblastoid active region 24822 [Gene]
  • LOC129996824:ATAC-STARR-seq lymphoblastoid active region 24823 [Gene]
  • LOC129996825:ATAC-STARR-seq lymphoblastoid active region 24824 [Gene]
  • LOC129996826:ATAC-STARR-seq lymphoblastoid active region 24826 [Gene]
  • LOC129996827:ATAC-STARR-seq lymphoblastoid active region 24827 [Gene]
  • LOC129996828:ATAC-STARR-seq lymphoblastoid active region 24828 [Gene]
  • LOC129996814:ATAC-STARR-seq lymphoblastoid silent region 17382 [Gene]
  • LOC129996815:ATAC-STARR-seq lymphoblastoid silent region 17383 [Gene]
  • LOC129996816:ATAC-STARR-seq lymphoblastoid silent region 17385 [Gene]
  • LOC129996818:ATAC-STARR-seq lymphoblastoid silent region 17386 [Gene]
  • LOC129996819:ATAC-STARR-seq lymphoblastoid silent region 17387 [Gene]
  • LOC129996821:ATAC-STARR-seq lymphoblastoid silent region 17388 [Gene]
  • LOC129996823:ATAC-STARR-seq lymphoblastoid silent region 17391 [Gene]
  • LOC129996829:ATAC-STARR-seq lymphoblastoid silent region 17392 [Gene]
  • LOC129996830:ATAC-STARR-seq lymphoblastoid silent region 17393 [Gene]
  • LOC129996831:ATAC-STARR-seq lymphoblastoid silent region 17394 [Gene]
  • LOC129996832:ATAC-STARR-seq lymphoblastoid silent region 17395 [Gene]
  • LOC126859737:BRD4-independent group 4 enhancer GRCh37_chr6:90007048-90008247 [Gene]
  • LOC126859738:BRD4-independent group 4 enhancer GRCh37_chr6:90347214-90348413 [Gene]
  • LOC126859739:BRD4-independent group 4 enhancer GRCh37_chr6:90367565-90368764 [Gene]
  • LOC116183066:CRISPRi-validated cis-regulatory element chr6.3824 [Gene]
  • LYRM2:LYR motif containing 2 [Gene - HGNC]
  • MDN1-AS1:MDN1 antisense RNA 1 [Gene - HGNC]
  • LOC129389577:MPRA-validated peak5950 silencer [Gene]
  • LOC129389578:MPRA-validated peak5952 silencer [Gene]
  • PNRC1-DT:PNRC1 divergent transcript [Gene - HGNC]
  • RRAGD:Ras related GTP binding D [Gene - OMIM - HGNC]
  • LOC121740658:Sharpr-MPRA regulatory region 13381 [Gene]
  • LOC113175020:Sharpr-MPRA regulatory region 5254 [Gene]
  • LOC123775382:Sharpr-MPRA regulatory region 852 [Gene]
  • ANKRD6:ankyrin repeat domain 6 [Gene - OMIM - HGNC]
  • GABRR1:gamma-aminobutyric acid type A receptor subunit rho1 [Gene - OMIM - HGNC]
  • GABRR2:gamma-aminobutyric acid type A receptor subunit rho2 [Gene - OMIM - HGNC]
  • MDN1:midasin AAA ATPase 1 [Gene - OMIM - HGNC]
  • PM20D2:peptidase M20 domain containing 2 [Gene - OMIM - HGNC]
  • PNRC1:proline rich nuclear receptor coactivator 1 [Gene - OMIM - HGNC]
  • SRSF12:serine and arginine rich splicing factor 12 [Gene - HGNC]
  • UBE2J1:ubiquitin conjugating enzyme E2 J1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
6q15
Genomic location:
Preferred name:
GRCh38/hg38 6q15(chr6:89007799-89705596)x3
HGVS:
  • NC_000006.12:g.(?_89007799)_(89705596_?)dup
  • NC_000006.11:g.(?_89717518)_(90415315_?)dup
Links:
dbVar: nssv3394938; dbVar: nsv995739
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
SCV000183166ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Aug 26, 2013) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000183166.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024