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GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 7, 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:
RCV000137726.6

Allele description [Variation Report for GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3]

GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3

Genes:
  • LOC129997067:ATAC-STARR-seq lymphoblastoid active region 25010 [Gene]
  • LOC129997068:ATAC-STARR-seq lymphoblastoid active region 25011 [Gene]
  • LOC129997069:ATAC-STARR-seq lymphoblastoid active region 25012 [Gene]
  • LOC129997074:ATAC-STARR-seq lymphoblastoid active region 25013 [Gene]
  • LOC129997075:ATAC-STARR-seq lymphoblastoid active region 25014 [Gene]
  • LOC129997077:ATAC-STARR-seq lymphoblastoid active region 25015 [Gene]
  • LOC129997082:ATAC-STARR-seq lymphoblastoid active region 25016 [Gene]
  • LOC129997084:ATAC-STARR-seq lymphoblastoid active region 25017 [Gene]
  • LOC129997088:ATAC-STARR-seq lymphoblastoid active region 25018 [Gene]
  • LOC129997090:ATAC-STARR-seq lymphoblastoid active region 25019 [Gene]
  • LOC129997092:ATAC-STARR-seq lymphoblastoid active region 25020 [Gene]
  • LOC129997093:ATAC-STARR-seq lymphoblastoid active region 25021 [Gene]
  • LOC129997095:ATAC-STARR-seq lymphoblastoid active region 25022 [Gene]
  • LOC129997096:ATAC-STARR-seq lymphoblastoid active region 25023 [Gene]
  • LOC129997097:ATAC-STARR-seq lymphoblastoid active region 25024 [Gene]
  • LOC129997098:ATAC-STARR-seq lymphoblastoid active region 25025 [Gene]
  • LOC129997100:ATAC-STARR-seq lymphoblastoid active region 25026 [Gene]
  • LOC129997101:ATAC-STARR-seq lymphoblastoid active region 25027 [Gene]
  • LOC129997102:ATAC-STARR-seq lymphoblastoid active region 25028 [Gene]
  • LOC129997103:ATAC-STARR-seq lymphoblastoid active region 25029 [Gene]
  • LOC129997108:ATAC-STARR-seq lymphoblastoid active region 25031 [Gene]
  • LOC129997110:ATAC-STARR-seq lymphoblastoid active region 25032 [Gene]
  • LOC129997112:ATAC-STARR-seq lymphoblastoid active region 25033 [Gene]
  • LOC129997113:ATAC-STARR-seq lymphoblastoid active region 25035 [Gene]
  • LOC129997114:ATAC-STARR-seq lymphoblastoid active region 25036 [Gene]
  • LOC129997070:ATAC-STARR-seq lymphoblastoid silent region 17500 [Gene]
  • LOC129997071:ATAC-STARR-seq lymphoblastoid silent region 17501 [Gene]
  • LOC129997072:ATAC-STARR-seq lymphoblastoid silent region 17502 [Gene]
  • LOC129997073:ATAC-STARR-seq lymphoblastoid silent region 17503 [Gene]
  • LOC129997076:ATAC-STARR-seq lymphoblastoid silent region 17504 [Gene]
  • LOC129997078:ATAC-STARR-seq lymphoblastoid silent region 17505 [Gene]
  • LOC129997079:ATAC-STARR-seq lymphoblastoid silent region 17506 [Gene]
  • LOC129997080:ATAC-STARR-seq lymphoblastoid silent region 17507 [Gene]
  • LOC129997081:ATAC-STARR-seq lymphoblastoid silent region 17508 [Gene]
  • LOC129997083:ATAC-STARR-seq lymphoblastoid silent region 17509 [Gene]
  • LOC129997085:ATAC-STARR-seq lymphoblastoid silent region 17510 [Gene]
  • LOC129997086:ATAC-STARR-seq lymphoblastoid silent region 17511 [Gene]
  • LOC129997087:ATAC-STARR-seq lymphoblastoid silent region 17512 [Gene]
  • LOC129997089:ATAC-STARR-seq lymphoblastoid silent region 17513 [Gene]
  • LOC129997091:ATAC-STARR-seq lymphoblastoid silent region 17514 [Gene]
  • LOC129997094:ATAC-STARR-seq lymphoblastoid silent region 17516 [Gene]
  • LOC129997099:ATAC-STARR-seq lymphoblastoid silent region 17517 [Gene]
  • LOC129997104:ATAC-STARR-seq lymphoblastoid silent region 17518 [Gene]
  • LOC129997105:ATAC-STARR-seq lymphoblastoid silent region 17519 [Gene]
  • LOC129997106:ATAC-STARR-seq lymphoblastoid silent region 17520 [Gene]
  • LOC129997107:ATAC-STARR-seq lymphoblastoid silent region 17521 [Gene]
  • LOC129997109:ATAC-STARR-seq lymphoblastoid silent region 17523 [Gene]
  • LOC129997111:ATAC-STARR-seq lymphoblastoid silent region 17524 [Gene]
  • LOC126859775:BRD4-independent group 4 enhancer GRCh37_chr6:121948343-121949542 [Gene]
  • LOC126859776:BRD4-independent group 4 enhancer GRCh37_chr6:123017072-123018271 [Gene]
  • LOC126859779:BRD4-independent group 4 enhancer GRCh37_chr6:126239365-126240564 [Gene]
  • LOC126859772:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:118276469-118277668 [Gene]
  • LOC126859774:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:121094847-121096046 [Gene]
  • LOC126859778:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:125849225-125850424 [Gene]
  • LOC116183067:CRISPRi-validated cis-regulatory element chr6.4553 [Gene]
  • LOC116183068:CRISPRi-validated cis-regulatory element chr6.4554 [Gene]
  • LOC123833537:H3K27ac hESC enhancer GRCh37_chr6:123110213-123110714 [Gene]
  • HDDC2:HD domain containing 2 [Gene - HGNC]
  • HEY2-AS1:HEY2 antisense RNA 1 [Gene - HGNC]
  • LOC126859773:MED14-independent group 3 enhancer GRCh37_chr6:118894930-118896129 [Gene]
  • LOC126859777:MED14-independent group 3 enhancer GRCh37_chr6:125444775-125445974 [Gene]
  • LOC129389624:MPRA-validated peak6055 silencer [Gene]
  • LOC129389625:MPRA-validated peak6057 silencer [Gene]
  • LOC129389626:MPRA-validated peak6062 silencer [Gene]
  • LOC129389627:MPRA-validated peak6067 silencer [Gene]
  • LOC129389628:MPRA-validated peak6076 silencer [Gene]
  • LOC129389629:MPRA-validated peak6077 silencer [Gene]
  • LOC129389630:MPRA-validated peak6080 silencer [Gene]
  • LOC129389631:MPRA-validated peak6085 silencer [Gene]
  • LOC129389632:MPRA-validated peak6087 silencer [Gene]
  • LOC129389633:MPRA-validated peak6091 silencer [Gene]
  • LOC129389634:MPRA-validated peak6092 silencer [Gene]
  • LOC129389635:MPRA-validated peak6095 silencer [Gene]
  • LOC129389636:MPRA-validated peak6096 silencer [Gene]
  • LOC129389637:MPRA-validated peak6097 silencer [Gene]
  • LOC129389638:MPRA-validated peak6098 silencer [Gene]
  • LOC129389639:MPRA-validated peak6100 silencer [Gene]
  • LOC129389640:MPRA-validated peak6102 silencer [Gene]
  • LOC129389641:MPRA-validated peak6103 silencer [Gene]
  • LOC129389642:MPRA-validated peak6105 silencer [Gene]
  • LOC129389643:MPRA-validated peak6111 silencer [Gene]
  • NCOA7-AS1:NCOA7 antisense RNA 1 [Gene - HGNC]
  • LOC108228196:NCOA7-HINT3 intergenic CAGE-defined high expression enhancer [Gene]
  • NUS1:NUS1 dehydrodolichyl diphosphate synthase subunit [Gene - OMIM - HGNC]
  • LOC132089321:Neanderthal introgressed variant-containing enhancer experimental_88364 [Gene]
  • LOC132089322:Neanderthal introgressed variant-containing enhancer experimental_88495 [Gene]
  • LOC132089323:Neanderthal introgressed variant-containing enhancer experimental_88541 [Gene]
  • LOC132090764:Neanderthal introgressed variant-containing enhancer experimental_88597 [Gene]
  • LOC132090765:Neanderthal introgressed variant-containing enhancer experimental_88787 [Gene]
  • LOC132089324:Neanderthal introgressed variant-containing enhancer experimental_88931 [Gene]
  • LOC132089325:Neanderthal introgressed variant-containing enhancer experimental_89007 [Gene]
  • LOC132089326:Neanderthal introgressed variant-containing enhancer experimental_89060 [Gene]
  • LOC132089327:Neanderthal introgressed variant-containing enhancer experimental_89073 [Gene]
  • LOC132089328:Neanderthal introgressed variant-containing enhancer experimental_89101 [Gene]
  • LOC132089329:Neanderthal introgressed variant-containing enhancer experimental_89176 [Gene]
  • LOC132089330:Neanderthal introgressed variant-containing enhancer experimental_89339 [Gene]
  • LOC132090766:Neanderthal introgressed variant-containing enhancer experimental_89387 [Gene]
  • LOC132089331:Neanderthal introgressed variant-containing enhancer experimental_89523 [Gene]
  • LOC132089332:Neanderthal introgressed variant-containing enhancer experimental_89548 [Gene]
  • LOC132090767:Neanderthal introgressed variant-containing enhancer experimental_89596 [Gene]
  • RNF217-AS1:RNF217 antisense RNA 1 (head to head) [Gene - OMIM - HGNC]
  • LOC123864061:Sharpr-MPRA regulatory region 10347 [Gene]
  • LOC121132705:Sharpr-MPRA regulatory region 11019 [Gene]
  • LOC123833536:Sharpr-MPRA regulatory region 11815 [Gene]
  • LOC113146409:Sharpr-MPRA regulatory region 12057 [Gene]
  • LOC123833533:Sharpr-MPRA regulatory region 12550 [Gene]
  • LOC123833534:Sharpr-MPRA regulatory region 13895 [Gene]
  • LOC123864062:Sharpr-MPRA regulatory region 14390 [Gene]
  • LOC123833535:Sharpr-MPRA regulatory region 15426 [Gene]
  • LOC123864060:Sharpr-MPRA regulatory region 4155 [Gene]
  • LOC123833532:Sharpr-MPRA regulatory region 6198 [Gene]
  • LOC123833531:Sharpr-MPRA regulatory region 8561 [Gene]
  • TBC1D32:TBC1 domain family member 32 [Gene - OMIM - HGNC]
  • TPD52L1:TPD52 like 1 [Gene - OMIM - HGNC]
  • TRDN-AS1:TRDN antisense RNA 1 [Gene - HGNC]
  • LOC110121273:VISTA enhancer hs2188 [Gene]
  • ASF1A:anti-silencing function 1A histone chaperone [Gene - OMIM - HGNC]
  • PKIB:cAMP-dependent protein kinase inhibitor beta [Gene - OMIM - HGNC]
  • CENPW:centromere protein W [Gene - OMIM - HGNC]
  • CEP85L:centrosomal protein 85 like [Gene - OMIM - HGNC]
  • CLVS2:clavesin 2 [Gene - OMIM - HGNC]
  • FAM184A:family with sequence similarity 184 member A [Gene - HGNC]
  • FABP7:fatty acid binding protein 7 [Gene - OMIM - HGNC]
  • GJA1:gap junction protein alpha 1 [Gene - OMIM - HGNC]
  • HSF2:heat shock transcription factor 2 [Gene - OMIM - HGNC]
  • HEY2:hes related family bHLH transcription factor with YRPW motif 2 [Gene - OMIM - HGNC]
  • HINT3:histidine triad nucleotide binding protein 3 [Gene - OMIM - HGNC]
  • LINC02523:long intergenic non-protein coding RNA 2523 [Gene - HGNC]
  • MAN1A1:mannosidase alpha class 1A member 1 [Gene - OMIM - HGNC]
  • MIR3144:microRNA 3144 [Gene - HGNC]
  • MIR548B:microRNA 548b [Gene - HGNC]
  • MIR588:microRNA 588 [Gene - HGNC]
  • MCM9:minichromosome maintenance 9 homologous recombination repair factor [Gene - OMIM - HGNC]
  • NCOA7:nuclear receptor coactivator 7 [Gene - OMIM - HGNC]
  • PLN:phospholamban [Gene - OMIM - HGNC]
  • RNF217:ring finger protein 217 [Gene - OMIM - HGNC]
  • SERINC1:serine incorporator 1 [Gene - OMIM - HGNC]
  • NKAIN2:sodium/potassium transporting ATPase interacting 2 [Gene - OMIM - HGNC]
  • SLC35F1:solute carrier family 35 member F1 [Gene - OMIM - HGNC]
  • SMPDL3A:sphingomyelin phosphodiesterase acid like 3A [Gene - OMIM - HGNC]
  • TRMT11:tRNA methyltransferase 11 homolog [Gene - HGNC]
  • TRE-CTC1-7:tRNA-Glu (anticodon CTC) 1-7 [Gene - HGNC]
  • TRDN:triadin [Gene - OMIM - HGNC]
  • LOC100126584:uncharacterized LOC100126584 [Gene]
  • LOC101927919:uncharacterized LOC101927919 [Gene]
  • LOC102723341:uncharacterized LOC102723341 [Gene]
  • LOC105377967:uncharacterized LOC105377967 [Gene]
  • LOC105377975:uncharacterized LOC105377975 [Gene]
  • LOC285762:uncharacterized LOC285762 [Gene]
Variant type:
copy number gain
Cytogenetic location:
6q22.1-22.32
Genomic location:
Preferred name:
GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3
HGVS:
  • NC_000006.12:g.(?_117607147)_(126699980_?)dup
  • NC_000006.10:g.(?_118035003)_(127062818_?)dup
  • NC_000006.11:g.(?_117928310)_(127021125_?)dup
Links:
dbVar: nssv1495729; dbVar: nsv868902
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
SCV000177973ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Oct 7, 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, SCV000177973.4

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

Last Updated: Oct 14, 2023