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GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2010
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:
RCV000137174.6

Allele description

GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1

Genes:
  • 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]
  • 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]
  • LOC126859776:BRD4-independent group 4 enhancer GRCh37_chr6:123017072-123018271 [Gene]
  • LOC126859779:BRD4-independent group 4 enhancer GRCh37_chr6:126239365-126240564 [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]
  • LOC126859777:MED14-independent group 3 enhancer GRCh37_chr6:125444775-125445974 [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]
  • 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]
  • LOC123864062:Sharpr-MPRA regulatory region 14390 [Gene]
  • LOC123833535:Sharpr-MPRA regulatory region 15426 [Gene]
  • LOC123864060:Sharpr-MPRA regulatory region 4155 [Gene]
  • TPD52L1:TPD52 like 1 [Gene - OMIM - HGNC]
  • TRDN-AS1:TRDN antisense RNA 1 [Gene - HGNC]
  • PKIB:cAMP-dependent protein kinase inhibitor beta [Gene - OMIM - HGNC]
  • CLVS2:clavesin 2 [Gene - OMIM - HGNC]
  • FABP7:fatty acid binding protein 7 [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]
  • NCOA7:nuclear receptor coactivator 7 [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]
  • 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]
  • LOC102723341:uncharacterized LOC102723341 [Gene]
Variant type:
copy number loss
Cytogenetic location:
6q22.31-22.32
Genomic location:
Preferred name:
GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1
HGVS:
  • NC_000006.12:g.(?_121829616)_(126154472_?)del
  • NC_000006.10:g.(?_122192461)_(126517311_?)del
  • NC_000006.11:g.(?_122150762)_(126475618_?)del
Links:
dbVar: nssv583223; dbVar: nsv534603
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
SCV000177380ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Dec 22, 2010) 		not providedclinical 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, SCV000177380.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023