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GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000051005.4

Allele description

GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1

Genes:
  • AKAP12:A-kinase anchoring protein 12 [Gene - OMIM - HGNC]
  • ADGB-DT:ADGB divergent transcript [Gene - HGNC]
  • LOC129997389:ATAC-STARR-seq lymphoblastoid active region 25232 [Gene]
  • LOC129997397:ATAC-STARR-seq lymphoblastoid active region 25234 [Gene]
  • LOC129997398:ATAC-STARR-seq lymphoblastoid active region 25235 [Gene]
  • LOC129997399:ATAC-STARR-seq lymphoblastoid active region 25236 [Gene]
  • LOC129997400:ATAC-STARR-seq lymphoblastoid active region 25237 [Gene]
  • LOC129997403:ATAC-STARR-seq lymphoblastoid active region 25238 [Gene]
  • LOC129997404:ATAC-STARR-seq lymphoblastoid active region 25239 [Gene]
  • LOC129997407:ATAC-STARR-seq lymphoblastoid active region 25240 [Gene]
  • LOC129997408:ATAC-STARR-seq lymphoblastoid active region 25241 [Gene]
  • LOC129997409:ATAC-STARR-seq lymphoblastoid active region 25242 [Gene]
  • LOC129997410:ATAC-STARR-seq lymphoblastoid active region 25243 [Gene]
  • LOC129997411:ATAC-STARR-seq lymphoblastoid active region 25244 [Gene]
  • LOC129997412:ATAC-STARR-seq lymphoblastoid active region 25245 [Gene]
  • LOC129997413:ATAC-STARR-seq lymphoblastoid active region 25246 [Gene]
  • LOC129997415:ATAC-STARR-seq lymphoblastoid active region 25247 [Gene]
  • LOC129997416:ATAC-STARR-seq lymphoblastoid active region 25248 [Gene]
  • LOC129997417:ATAC-STARR-seq lymphoblastoid active region 25249 [Gene]
  • LOC129997418:ATAC-STARR-seq lymphoblastoid active region 25250 [Gene]
  • LOC129997419:ATAC-STARR-seq lymphoblastoid active region 25251 [Gene]
  • LOC129997424:ATAC-STARR-seq lymphoblastoid active region 25252 [Gene]
  • LOC129997425:ATAC-STARR-seq lymphoblastoid active region 25253 [Gene]
  • LOC129997426:ATAC-STARR-seq lymphoblastoid active region 25254 [Gene]
  • LOC129997427:ATAC-STARR-seq lymphoblastoid active region 25255 [Gene]
  • LOC129997428:ATAC-STARR-seq lymphoblastoid active region 25256 [Gene]
  • LOC129997430:ATAC-STARR-seq lymphoblastoid active region 25258 [Gene]
  • LOC129997431:ATAC-STARR-seq lymphoblastoid active region 25260 [Gene]
  • LOC129997432:ATAC-STARR-seq lymphoblastoid active region 25262 [Gene]
  • LOC129997434:ATAC-STARR-seq lymphoblastoid active region 25263 [Gene]
  • LOC129997436:ATAC-STARR-seq lymphoblastoid active region 25264 [Gene]
  • LOC129997437:ATAC-STARR-seq lymphoblastoid active region 25265 [Gene]
  • LOC129997438:ATAC-STARR-seq lymphoblastoid active region 25266 [Gene]
  • LOC129997441:ATAC-STARR-seq lymphoblastoid active region 25267 [Gene]
  • LOC129997442:ATAC-STARR-seq lymphoblastoid active region 25268 [Gene]
  • LOC129997450:ATAC-STARR-seq lymphoblastoid active region 25270 [Gene]
  • LOC129997451:ATAC-STARR-seq lymphoblastoid active region 25271 [Gene]
  • LOC129997452:ATAC-STARR-seq lymphoblastoid active region 25272 [Gene]
  • LOC129997456:ATAC-STARR-seq lymphoblastoid active region 25273 [Gene]
  • LOC129997457:ATAC-STARR-seq lymphoblastoid active region 25274 [Gene]
  • LOC129997458:ATAC-STARR-seq lymphoblastoid active region 25275 [Gene]
  • LOC129997459:ATAC-STARR-seq lymphoblastoid active region 25276 [Gene]
  • LOC129997461:ATAC-STARR-seq lymphoblastoid active region 25277 [Gene]
  • LOC129997462:ATAC-STARR-seq lymphoblastoid active region 25278 [Gene]
  • LOC129997467:ATAC-STARR-seq lymphoblastoid active region 25279 [Gene]
  • LOC129997468:ATAC-STARR-seq lymphoblastoid active region 25280 [Gene]
  • LOC129997469:ATAC-STARR-seq lymphoblastoid active region 25281 [Gene]
  • LOC129997388:ATAC-STARR-seq lymphoblastoid silent region 17644 [Gene]
  • LOC129997390:ATAC-STARR-seq lymphoblastoid silent region 17645 [Gene]
  • LOC129997391:ATAC-STARR-seq lymphoblastoid silent region 17646 [Gene]
  • LOC129997392:ATAC-STARR-seq lymphoblastoid silent region 17647 [Gene]
  • LOC129997393:ATAC-STARR-seq lymphoblastoid silent region 17648 [Gene]
  • LOC129997394:ATAC-STARR-seq lymphoblastoid silent region 17649 [Gene]
  • LOC129997395:ATAC-STARR-seq lymphoblastoid silent region 17650 [Gene]
  • LOC129997396:ATAC-STARR-seq lymphoblastoid silent region 17651 [Gene]
  • LOC129997401:ATAC-STARR-seq lymphoblastoid silent region 17652 [Gene]
  • LOC129997402:ATAC-STARR-seq lymphoblastoid silent region 17653 [Gene]
  • LOC129997405:ATAC-STARR-seq lymphoblastoid silent region 17654 [Gene]
  • LOC129997406:ATAC-STARR-seq lymphoblastoid silent region 17655 [Gene]
  • LOC129997414:ATAC-STARR-seq lymphoblastoid silent region 17656 [Gene]
  • LOC129997420:ATAC-STARR-seq lymphoblastoid silent region 17657 [Gene]
  • LOC129997421:ATAC-STARR-seq lymphoblastoid silent region 17658 [Gene]
  • LOC129997422:ATAC-STARR-seq lymphoblastoid silent region 17659 [Gene]
  • LOC129997423:ATAC-STARR-seq lymphoblastoid silent region 17660 [Gene]
  • LOC129997429:ATAC-STARR-seq lymphoblastoid silent region 17661 [Gene]
  • LOC129997433:ATAC-STARR-seq lymphoblastoid silent region 17662 [Gene]
  • LOC129997435:ATAC-STARR-seq lymphoblastoid silent region 17663 [Gene]
  • LOC129997439:ATAC-STARR-seq lymphoblastoid silent region 17664 [Gene]
  • LOC129997440:ATAC-STARR-seq lymphoblastoid silent region 17665 [Gene]
  • LOC129997443:ATAC-STARR-seq lymphoblastoid silent region 17667 [Gene]
  • LOC129997444:ATAC-STARR-seq lymphoblastoid silent region 17668 [Gene]
  • LOC129997445:ATAC-STARR-seq lymphoblastoid silent region 17669 [Gene]
  • LOC129997446:ATAC-STARR-seq lymphoblastoid silent region 17672 [Gene]
  • LOC129997447:ATAC-STARR-seq lymphoblastoid silent region 17673 [Gene]
  • LOC129997448:ATAC-STARR-seq lymphoblastoid silent region 17674 [Gene]
  • LOC129997449:ATAC-STARR-seq lymphoblastoid silent region 17675 [Gene]
  • LOC129997453:ATAC-STARR-seq lymphoblastoid silent region 17676 [Gene]
  • LOC129997454:ATAC-STARR-seq lymphoblastoid silent region 17677 [Gene]
  • LOC129997455:ATAC-STARR-seq lymphoblastoid silent region 17679 [Gene]
  • LOC129997460:ATAC-STARR-seq lymphoblastoid silent region 17680 [Gene]
  • LOC129997463:ATAC-STARR-seq lymphoblastoid silent region 17681 [Gene]
  • LOC129997464:ATAC-STARR-seq lymphoblastoid silent region 17682 [Gene]
  • LOC129997465:ATAC-STARR-seq lymphoblastoid silent region 17683 [Gene]
  • LOC129997466:ATAC-STARR-seq lymphoblastoid silent region 17684 [Gene]
  • LOC129997470:ATAC-STARR-seq lymphoblastoid silent region 17685 [Gene]
  • LOC129997471:ATAC-STARR-seq lymphoblastoid silent region 17686 [Gene]
  • LOC129997472:ATAC-STARR-seq lymphoblastoid silent region 17687 [Gene]
  • LOC126859826:BRD4-independent group 4 enhancer GRCh37_chr6:149394281-149395480 [Gene]
  • LOC126859827:BRD4-independent group 4 enhancer GRCh37_chr6:149699707-149700906 [Gene]
  • LOC126859829:BRD4-independent group 4 enhancer GRCh37_chr6:151169980-151171179 [Gene]
  • LOC126859828:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:150490206-150491405 [Gene]
  • LOC116183075:CRISPRi-validated cis-regulatory element chr6.5240 [Gene]
  • LRP11:LDL receptor related protein 11 [Gene - HGNC]
  • LOC126859823:MED14-independent group 3 enhancer GRCh37_chr6:147365163-147366362 [Gene]
  • LOC126859825:MED14-independent group 3 enhancer GRCh37_chr6:149194421-149195620 [Gene]
  • LOC126859830:MED14-independent group 3 enhancer GRCh37_chr6:151177675-151178874 [Gene]
  • LOC126859833:MED14-independent group 3 enhancer GRCh37_chr6:151413024-151414223 [Gene]
  • LOC129389677:MPRA-validated peak6197 silencer [Gene]
  • LOC129389678:MPRA-validated peak6199 silencer [Gene]
  • LOC129389679:MPRA-validated peak6200 silencer [Gene]
  • LOC129389680:MPRA-validated peak6202 silencer [Gene]
  • LOC129389681:MPRA-validated peak6203 silencer [Gene]
  • LOC129389682:MPRA-validated peak6206 silencer [Gene]
  • LOC129389683:MPRA-validated peak6208 silencer [Gene]
  • LOC129389684:MPRA-validated peak6209 silencer [Gene]
  • LOC129389685:MPRA-validated peak6210 silencer [Gene]
  • LOC129389686:MPRA-validated peak6211 silencer [Gene]
  • LOC129389687:MPRA-validated peak6214 silencer [Gene]
  • LOC132089373:Neanderthal introgressed variant-containing enhancer experimental_90808 [Gene]
  • LOC132090771:Neanderthal introgressed variant-containing enhancer experimental_90950 [Gene]
  • LOC113146423:OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:148920936-148921524 [Gene]
  • LOC126859824:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:148467567-148468766 [Gene]
  • LOC126859831:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:151357191-151358390 [Gene]
  • LOC126859832:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:151381202-151382401 [Gene]
  • LOC108348020:PLEKHG1 intron CAGE-defined B cell enhancer [Gene]
  • RAB32:RAB32, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAET1E-AS1:RAET1E antisense RNA 1 [Gene - HGNC]
  • RAET1E-LRP11:RAET1E-LRP11 readthrough [Gene]
  • SASH1:SAM and SH3 domain containing 1 [Gene - OMIM - HGNC]
  • STXBP5-AS1:STXBP5 antisense RNA 1 [Gene - HGNC]
  • LOC123881337:Sharpr-MPRA regulatory region 10334 [Gene]
  • LOC123881324:Sharpr-MPRA regulatory region 12413 [Gene]
  • LOC123881328:Sharpr-MPRA regulatory region 12512 [Gene]
  • LOC123881333:Sharpr-MPRA regulatory region 12981 [Gene]
  • LOC123881336:Sharpr-MPRA regulatory region 13910 [Gene]
  • LOC123881325:Sharpr-MPRA regulatory region 1441 [Gene]
  • LOC123881331:Sharpr-MPRA regulatory region 14768 [Gene]
  • LOC123881335:Sharpr-MPRA regulatory region 14815 [Gene]
  • LOC123881334:Sharpr-MPRA regulatory region 1657 [Gene]
  • LOC123881329:Sharpr-MPRA regulatory region 3985 [Gene]
  • LOC114004398:Sharpr-MPRA regulatory region 4102 [Gene]
  • LOC121740669:Sharpr-MPRA regulatory region 4352 [Gene]
  • LOC121740670:Sharpr-MPRA regulatory region 4624 [Gene]
  • LOC121132710:Sharpr-MPRA regulatory region 6687 [Gene]
  • LOC123881326:Sharpr-MPRA regulatory region 8239 [Gene]
  • LOC123881332:Sharpr-MPRA regulatory region 9319 [Gene]
  • LOC113146426:Sharpr-MPRA regulatory region 9409 [Gene]
  • LOC123881327:Sharpr-MPRA regulatory region 942 [Gene]
  • LOC123881330:Sharpr-MPRA regulatory region 9442 [Gene]
  • TAB2-AS1:TAB2 antisense RNA 1 [Gene - HGNC]
  • TAB2:TGF-beta activated kinase 1 (MAP3K7) binding protein 2 [Gene - OMIM - HGNC]
  • ULBP1:UL16 binding protein 1 [Gene - OMIM - HGNC]
  • ULBP2:UL16 binding protein 2 [Gene - OMIM - HGNC]
  • ULBP3:UL16 binding protein 3 [Gene - OMIM - HGNC]
  • UST-AS1:UST antisense RNA 1 [Gene - HGNC]
  • UST-AS2:UST antisense RNA 2 [Gene - HGNC]
  • LOC110121225:VISTA enhancer hs1922 [Gene]
  • ADGB:androglobin [Gene - OMIM - HGNC]
  • GINM1:glycosylated integral membrane protein 1 [Gene - HGNC]
  • IYD:iodotyrosine deiodinase [Gene - OMIM - HGNC]
  • KATNA1:katanin catalytic subunit A1 [Gene - OMIM - HGNC]
  • LATS1:large tumor suppressor kinase 1 [Gene - OMIM - HGNC]
  • LUADT1:lung adenocarcinoma associated transcript 1 [Gene - HGNC]
  • LOC107403234:meiotic recombination hotspot D [Gene]
  • MTHFD1L:methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like [Gene - OMIM - HGNC]
  • MIR12131:microRNA 12131 [Gene - HGNC]
  • NUP43:nucleoporin 43 [Gene - OMIM - HGNC]
  • PPIL4:peptidylprolyl isomerase like 4 [Gene - OMIM - HGNC]
  • PLEKHG1:pleckstrin homology and RhoGEF domain containing G1 [Gene - OMIM - HGNC]
  • PPP1R14C:protein phosphatase 1 regulatory inhibitor subunit 14C [Gene - OMIM - HGNC]
  • PCMT1:protein-L-isoaspartate (D-aspartate) O-methyltransferase [Gene - OMIM - HGNC]
  • RMND1:required for meiotic nuclear division 1 homolog [Gene - OMIM - HGNC]
  • RAET1E:retinoic acid early transcript 1E [Gene - OMIM - HGNC]
  • RAET1G:retinoic acid early transcript 1G [Gene - OMIM - HGNC]
  • RAET1L:retinoic acid early transcript 1L [Gene - OMIM - HGNC]
  • SUMO4:small ubiquitin like modifier 4 [Gene - OMIM - HGNC]
  • SAMD5:sterile alpha motif domain containing 5 [Gene - OMIM - HGNC]
  • STXBP5:syntaxin binding protein 5 [Gene - OMIM - HGNC]
  • LOC102723831:uncharacterized LOC102723831 [Gene]
  • LOC105378052:uncharacterized LOC105378052 [Gene]
  • LOC645967:uncharacterized LOC645967 [Gene]
  • UST:uronyl 2-sulfotransferase [Gene - OMIM - HGNC]
  • ZC3H12D:zinc finger CCCH-type containing 12D [Gene - OMIM - HGNC]
  • ZBTB2:zinc finger and BTB domain containing 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
6q24.3-25.1
Genomic location:
Preferred name:
GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1
HGVS:
  • NC_000006.12:g.(?_146481119)_(151427629_?)del
  • NC_000006.10:g.(?_146843948)_(151790457_?)del
  • NC_000006.11:g.(?_146802255)_(151748764_?)del
Links:
dbVar: nssv578133; dbVar: nsv529567
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
SCV000078341ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical 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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 4, SCV000078341.4

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

Last Updated: Oct 14, 2023