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GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 24, 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:
RCV000135580.6

Allele description [Variation Report for GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3]

GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3

Genes:
  • ADGRF5-AS1:ADGRF5 antisense RNA 1 [Gene - HGNC]
  • LOC129996579:ATAC-STARR-seq lymphoblastoid active region 24644 [Gene]
  • LOC129996580:ATAC-STARR-seq lymphoblastoid active region 24645 [Gene]
  • LOC129996581:ATAC-STARR-seq lymphoblastoid active region 24646 [Gene]
  • LOC129996583:ATAC-STARR-seq lymphoblastoid active region 24647 [Gene]
  • LOC129996584:ATAC-STARR-seq lymphoblastoid active region 24648 [Gene]
  • LOC129996585:ATAC-STARR-seq lymphoblastoid active region 24649 [Gene]
  • LOC129996586:ATAC-STARR-seq lymphoblastoid active region 24650 [Gene]
  • LOC129996588:ATAC-STARR-seq lymphoblastoid active region 24651 [Gene]
  • LOC129996591:ATAC-STARR-seq lymphoblastoid active region 24652 [Gene]
  • LOC129996592:ATAC-STARR-seq lymphoblastoid active region 24653 [Gene]
  • LOC129996594:ATAC-STARR-seq lymphoblastoid active region 24654 [Gene]
  • LOC129996596:ATAC-STARR-seq lymphoblastoid active region 24655 [Gene]
  • LOC129996597:ATAC-STARR-seq lymphoblastoid active region 24656 [Gene]
  • LOC129996598:ATAC-STARR-seq lymphoblastoid active region 24657 [Gene]
  • LOC129996599:ATAC-STARR-seq lymphoblastoid active region 24658 [Gene]
  • LOC129996600:ATAC-STARR-seq lymphoblastoid active region 24659 [Gene]
  • LOC129996601:ATAC-STARR-seq lymphoblastoid active region 24660 [Gene]
  • LOC129996602:ATAC-STARR-seq lymphoblastoid active region 24661 [Gene]
  • LOC129996603:ATAC-STARR-seq lymphoblastoid active region 24662 [Gene]
  • LOC129996578:ATAC-STARR-seq lymphoblastoid silent region 17265 [Gene]
  • LOC129996582:ATAC-STARR-seq lymphoblastoid silent region 17267 [Gene]
  • LOC129996587:ATAC-STARR-seq lymphoblastoid silent region 17269 [Gene]
  • LOC129996589:ATAC-STARR-seq lymphoblastoid silent region 17270 [Gene]
  • LOC129996590:ATAC-STARR-seq lymphoblastoid silent region 17271 [Gene]
  • LOC129996593:ATAC-STARR-seq lymphoblastoid silent region 17272 [Gene]
  • LOC129996595:ATAC-STARR-seq lymphoblastoid silent region 17273 [Gene]
  • LOC129996604:ATAC-STARR-seq lymphoblastoid silent region 17275 [Gene]
  • LOC126859683:BRD4-independent group 4 enhancer GRCh37_chr6:46894113-46895312 [Gene]
  • LOC126859684:BRD4-independent group 4 enhancer GRCh37_chr6:47011981-47013180 [Gene]
  • CD2AP:CD2 associated protein [Gene - OMIM - HGNC]
  • CD2AP-DT:CD2AP divergent transcript [Gene - HGNC]
  • LOC126859682:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:45868755-45869954 [Gene]
  • LOC116183064:CRISPRi-validated cis-regulatory element chr6.3292 [Gene]
  • LOC126859685:MED14-independent group 3 enhancer GRCh37_chr6:47252971-47254170 [Gene]
  • LOC126859686:MED14-independent group 3 enhancer GRCh37_chr6:47589053-47590252 [Gene]
  • LOC129389525:MPRA-validated peak5820 silencer [Gene]
  • LOC129389526:MPRA-validated peak5821 silencer [Gene]
  • LOC129389527:MPRA-validated peak5822 silencer [Gene]
  • LOC129389528:MPRA-validated peak5825 silencer [Gene]
  • LOC129389529:MPRA-validated peak5829 silencer [Gene]
  • LOC129389530:MPRA-validated peak5831 silencer [Gene]
  • LOC129389531:MPRA-validated peak5833 silencer [Gene]
  • LOC132089398:Neanderthal introgressed variant-containing enhancer experimental_92032 [Gene]
  • LOC126859681:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:45623433-45624632 [Gene]
  • RCAN2-DT:RCAN2 divergent transcript [Gene - HGNC]
  • RUNX2:RUNX family transcription factor 2 [Gene - OMIM - HGNC]
  • LOC109611593:RUNX2 P1 promoter region [Gene]
  • RUNX2-AS1:RUNX2 antisense RNA 1 [Gene - HGNC]
  • SUPT3H:SPT3 homolog, SAGA and STAGA complex component [Gene - OMIM - HGNC]
  • LOC114004401:Sharpr-MPRA regulatory region 10363 [Gene]
  • LOC123744813:Sharpr-MPRA regulatory region 12811 [Gene]
  • LOC123744816:Sharpr-MPRA regulatory region 13557 [Gene]
  • LOC123744815:Sharpr-MPRA regulatory region 15024 [Gene]
  • LOC123744814:Sharpr-MPRA regulatory region 1586 [Gene]
  • LOC123744817:Sharpr-MPRA regulatory region 3755 [Gene]
  • LOC121132687:Sharpr-MPRA regulatory region 4111 [Gene]
  • LOC121132686:Sharpr-MPRA regulatory region 695 [Gene]
  • TDRD6-AS1:TDRD6 and SLC25A27 antisense RNA 1 [Gene - HGNC]
  • TNFRSF21:TNF receptor superfamily member 21 [Gene - OMIM - HGNC]
  • LOC110121112:VISTA enhancer hs1461 [Gene]
  • ADGRF1:adhesion G protein-coupled receptor F1 [Gene - OMIM - HGNC]
  • ADGRF2:adhesion G protein-coupled receptor F2 [Gene - HGNC]
  • ADGRF4:adhesion G protein-coupled receptor F4 [Gene - OMIM - HGNC]
  • ADGRF5:adhesion G protein-coupled receptor F5 [Gene - HGNC]
  • ANKRD66:ankyrin repeat domain 66 [Gene - HGNC]
  • CLIC5:chloride intracellular channel 5 [Gene - OMIM - HGNC]
  • CYP39A1:cytochrome P450 family 39 subfamily A member 1 [Gene - OMIM - HGNC]
  • ENPP4:ectonucleotide pyrophosphatase/phosphodiesterase 4 [Gene - OMIM - HGNC]
  • ENPP5:ectonucleotide pyrophosphatase/phosphodiesterase family member 5 [Gene - OMIM - HGNC]
  • MEP1A:meprin A subunit alpha [Gene - OMIM - HGNC]
  • MIR586:microRNA 586 [Gene - HGNC]
  • OPN5:opsin 5 [Gene - OMIM - HGNC]
  • PTCHD4:patched domain containing 4 [Gene - OMIM - HGNC]
  • PLA2G7:phospholipase A2 group VII [Gene - OMIM - HGNC]
  • RCAN2:regulator of calcineurin 2 [Gene - OMIM - HGNC]
  • LOC109611589:runt related transcription factor 2 polyalanine expansion region [Gene]
  • SLC25A27:solute carrier family 25 member 27 [Gene - OMIM - HGNC]
  • TDRD6:tudor domain containing 6 [Gene - OMIM - HGNC]
  • LOC101926915:uncharacterized LOC101926915 [Gene]
Variant type:
copy number gain
Cytogenetic location:
6p21.1-12.3
Genomic location:
Preferred name:
GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3
HGVS:
  • NC_000006.12:g.(?_44985760)_(47986838_?)dup
  • NC_000006.10:g.(?_45061475)_(48062533_?)dup
  • NC_000006.11:g.(?_44953497)_(47954574_?)dup
Links:
dbVar: nssv706282; dbVar: nsv530420
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
SCV000175462ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Jan 24, 2011) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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, SCV000175462.4

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

Last Updated: May 7, 2024