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GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 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:
RCV000138710.6

Allele description [Variation Report for GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1]

GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1

Genes:
  • LOC129995976:ATAC-STARR-seq lymphoblastoid active region 24149 [Gene]
  • LOC129995977:ATAC-STARR-seq lymphoblastoid active region 24150 [Gene]
  • LOC129995980:ATAC-STARR-seq lymphoblastoid active region 24152 [Gene]
  • LOC129995981:ATAC-STARR-seq lymphoblastoid active region 24153 [Gene]
  • LOC129995985:ATAC-STARR-seq lymphoblastoid active region 24157 [Gene]
  • LOC129995986:ATAC-STARR-seq lymphoblastoid active region 24158 [Gene]
  • LOC129995987:ATAC-STARR-seq lymphoblastoid active region 24159 [Gene]
  • LOC129995988:ATAC-STARR-seq lymphoblastoid active region 24160 [Gene]
  • LOC129995989:ATAC-STARR-seq lymphoblastoid active region 24161 [Gene]
  • LOC129995990:ATAC-STARR-seq lymphoblastoid active region 24162 [Gene]
  • LOC129995991:ATAC-STARR-seq lymphoblastoid active region 24163 [Gene]
  • LOC129995992:ATAC-STARR-seq lymphoblastoid active region 24164 [Gene]
  • LOC129995993:ATAC-STARR-seq lymphoblastoid active region 24165 [Gene]
  • LOC129995994:ATAC-STARR-seq lymphoblastoid active region 24166 [Gene]
  • LOC129995995:ATAC-STARR-seq lymphoblastoid active region 24167 [Gene]
  • LOC129995996:ATAC-STARR-seq lymphoblastoid active region 24168 [Gene]
  • LOC129995998:ATAC-STARR-seq lymphoblastoid active region 24169 [Gene]
  • LOC129996000:ATAC-STARR-seq lymphoblastoid active region 24170 [Gene]
  • LOC129995978:ATAC-STARR-seq lymphoblastoid silent region 16989 [Gene]
  • LOC129995979:ATAC-STARR-seq lymphoblastoid silent region 16990 [Gene]
  • LOC129995982:ATAC-STARR-seq lymphoblastoid silent region 16991 [Gene]
  • LOC129995983:ATAC-STARR-seq lymphoblastoid silent region 16992 [Gene]
  • LOC129995984:ATAC-STARR-seq lymphoblastoid silent region 16993 [Gene]
  • LOC129995997:ATAC-STARR-seq lymphoblastoid silent region 16995 [Gene]
  • LOC129995999:ATAC-STARR-seq lymphoblastoid silent region 16996 [Gene]
  • LOC126859621:BRD4-independent group 4 enhancer GRCh37_chr6:24538795-24539994 [Gene]
  • LOC116158548:CRISPRi-validated cis-regulatory element chr6.1077 [Gene]
  • H2AC1:H2A clustered histone 1 [Gene - OMIM - HGNC]
  • H2BC1:H2B clustered histone 1 [Gene - OMIM - HGNC]
  • KIAA0319:KIAA0319 [Gene - OMIM - HGNC]
  • LOC126859623:MED14-independent group 3 enhancer GRCh37_chr6:25660432-25661631 [Gene]
  • LOC129389475:MPRA-validated peak5732 silencer [Gene]
  • LOC129389476:MPRA-validated peak5733 silencer [Gene]
  • LOC129389477:MPRA-validated peak5735 silencer [Gene]
  • LOC129389478:MPRA-validated peak5738 silencer [Gene]
  • LOC129389479:MPRA-validated peak5739 silencer [Gene]
  • LOC123620069:OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24400121-24400856 [Gene]
  • LOC126859622:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:25504114-25505313 [Gene]
  • RIPOR2:RHO family interacting cell polarization regulator 2 [Gene - OMIM - HGNC]
  • LOC113174981:Sharpr-MPRA regulatory region 10928 [Gene]
  • LOC121132673:Sharpr-MPRA regulatory region 11328 [Gene]
  • LOC123620070:Sharpr-MPRA regulatory region 326 [Gene]
  • LOC113174983:Sharpr-MPRA regulatory region 4970 [Gene]
  • LOC113174982:Sharpr-MPRA regulatory region 5933 [Gene]
  • ACOT13:acyl-CoA thioesterase 13 [Gene - OMIM - HGNC]
  • ALDH5A1:aldehyde dehydrogenase 5 family member A1 [Gene - OMIM - HGNC]
  • ARMH2:armadillo like helical domain containing 2 [Gene - HGNC]
  • CARMIL1:capping protein regulator and myosin 1 linker 1 [Gene - OMIM - HGNC]
  • C6orf62:chromosome 6 open reading frame 62 [Gene - HGNC]
  • DCDC2:doublecortin domain containing 2 [Gene - OMIM - HGNC]
  • GMNN:geminin DNA replication inhibitor [Gene - OMIM - HGNC]
  • GPLD1:glycosylphosphatidylinositol specific phospholipase D1 [Gene - OMIM - HGNC]
  • KAAG1:kidney associated DCDC2 antisense RNA 1 [Gene - OMIM - HGNC]
  • LINC02828:long intergenic non-protein coding RNA 2828 [Gene - HGNC]
  • MRS2:magnesium transporter MRS2 [Gene - OMIM - HGNC]
  • NRSN1:neurensin 1 [Gene - OMIM - HGNC]
  • SCGN:secretagogin, EF-hand calcium binding protein [Gene - OMIM - HGNC]
  • SLC17A1:solute carrier family 17 member 1 [Gene - OMIM - HGNC]
  • SLC17A2:solute carrier family 17 member 2 [Gene - OMIM - HGNC]
  • SLC17A3:solute carrier family 17 member 3 [Gene - OMIM - HGNC]
  • SLC17A4:solute carrier family 17 member 4 [Gene - OMIM - HGNC]
  • TRIM38:tripartite motif containing 38 [Gene - HGNC]
  • TDP2:tyrosyl-DNA phosphodiesterase 2 [Gene - OMIM - HGNC]
  • LOC101928663:uncharacterized LOC101928663 [Gene]
  • LOC102724749:uncharacterized LOC102724749 [Gene]
  • LOC102724765:uncharacterized LOC102724765 [Gene]
Variant type:
copy number loss
Cytogenetic location:
6p22.3-22.2
Genomic location:
Preferred name:
GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1
HGVS:
  • NC_000006.12:g.(?_23252522)_(25967277_?)del
  • NC_000006.10:g.(?_23360729)_(26075484_?)del
  • NC_000006.11:g.(?_23252750)_(25967505_?)del
Links:
dbVar: nssv1602490; dbVar: nsv915991
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
SCV000179108ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Aug 2, 2012) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot 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, SCV000179108.4

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

Last Updated: May 7, 2024