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GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1 AND See cases

Germline classification:
Pathogenic (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:
RCV000142642.5

Allele description

GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1

Genes:
  • BPNT2:3'(2'), 5'-bisphosphate nucleotidase 2 [Gene - OMIM - HGNC]
  • ALKAL1:ALK and LTK ligand 1 [Gene - OMIM - HGNC]
  • LOC130000353:ATAC-STARR-seq lymphoblastoid active region 27339 [Gene]
  • LOC130000354:ATAC-STARR-seq lymphoblastoid active region 27340 [Gene]
  • LOC130000355:ATAC-STARR-seq lymphoblastoid active region 27341 [Gene]
  • LOC130000357:ATAC-STARR-seq lymphoblastoid active region 27342 [Gene]
  • LOC130000358:ATAC-STARR-seq lymphoblastoid active region 27343 [Gene]
  • LOC130000359:ATAC-STARR-seq lymphoblastoid active region 27344 [Gene]
  • LOC130000360:ATAC-STARR-seq lymphoblastoid active region 27345 [Gene]
  • LOC130000365:ATAC-STARR-seq lymphoblastoid active region 27347 [Gene]
  • LOC130000366:ATAC-STARR-seq lymphoblastoid active region 27348 [Gene]
  • LOC130000367:ATAC-STARR-seq lymphoblastoid active region 27349 [Gene]
  • LOC130000368:ATAC-STARR-seq lymphoblastoid active region 27350 [Gene]
  • LOC130000369:ATAC-STARR-seq lymphoblastoid active region 27351 [Gene]
  • LOC130000370:ATAC-STARR-seq lymphoblastoid active region 27352 [Gene]
  • LOC130000371:ATAC-STARR-seq lymphoblastoid active region 27353 [Gene]
  • LOC130000372:ATAC-STARR-seq lymphoblastoid active region 27354 [Gene]
  • LOC130000373:ATAC-STARR-seq lymphoblastoid active region 27355 [Gene]
  • LOC130000374:ATAC-STARR-seq lymphoblastoid active region 27356 [Gene]
  • LOC130000376:ATAC-STARR-seq lymphoblastoid active region 27358 [Gene]
  • LOC130000377:ATAC-STARR-seq lymphoblastoid active region 27359 [Gene]
  • LOC130000378:ATAC-STARR-seq lymphoblastoid active region 27360 [Gene]
  • LOC130000380:ATAC-STARR-seq lymphoblastoid active region 27361 [Gene]
  • LOC130000383:ATAC-STARR-seq lymphoblastoid active region 27362 [Gene]
  • LOC130000384:ATAC-STARR-seq lymphoblastoid active region 27363 [Gene]
  • LOC130000385:ATAC-STARR-seq lymphoblastoid active region 27364 [Gene]
  • LOC130000386:ATAC-STARR-seq lymphoblastoid active region 27365 [Gene]
  • LOC130000387:ATAC-STARR-seq lymphoblastoid active region 27366 [Gene]
  • LOC130000390:ATAC-STARR-seq lymphoblastoid active region 27370 [Gene]
  • LOC130000391:ATAC-STARR-seq lymphoblastoid active region 27371 [Gene]
  • LOC130000393:ATAC-STARR-seq lymphoblastoid active region 27372 [Gene]
  • LOC130000395:ATAC-STARR-seq lymphoblastoid active region 27373 [Gene]
  • LOC130000396:ATAC-STARR-seq lymphoblastoid active region 27374 [Gene]
  • LOC130000397:ATAC-STARR-seq lymphoblastoid active region 27375 [Gene]
  • LOC130000400:ATAC-STARR-seq lymphoblastoid active region 27376 [Gene]
  • LOC130000401:ATAC-STARR-seq lymphoblastoid active region 27377 [Gene]
  • LOC130000402:ATAC-STARR-seq lymphoblastoid active region 27378 [Gene]
  • LOC130000403:ATAC-STARR-seq lymphoblastoid active region 27379 [Gene]
  • LOC130000404:ATAC-STARR-seq lymphoblastoid active region 27380 [Gene]
  • LOC130000405:ATAC-STARR-seq lymphoblastoid active region 27381 [Gene]
  • LOC130000406:ATAC-STARR-seq lymphoblastoid active region 27382 [Gene]
  • LOC130000411:ATAC-STARR-seq lymphoblastoid active region 27383 [Gene]
  • LOC130000412:ATAC-STARR-seq lymphoblastoid active region 27385 [Gene]
  • LOC130000413:ATAC-STARR-seq lymphoblastoid active region 27386 [Gene]
  • LOC130000415:ATAC-STARR-seq lymphoblastoid active region 27387 [Gene]
  • LOC130000416:ATAC-STARR-seq lymphoblastoid active region 27388 [Gene]
  • LOC130000418:ATAC-STARR-seq lymphoblastoid active region 27390 [Gene]
  • LOC130000419:ATAC-STARR-seq lymphoblastoid active region 27392 [Gene]
  • LOC130000420:ATAC-STARR-seq lymphoblastoid active region 27393 [Gene]
  • LOC130000421:ATAC-STARR-seq lymphoblastoid active region 27394 [Gene]
  • LOC130000422:ATAC-STARR-seq lymphoblastoid active region 27395 [Gene]
  • LOC130000423:ATAC-STARR-seq lymphoblastoid active region 27396 [Gene]
  • LOC130000424:ATAC-STARR-seq lymphoblastoid active region 27397 [Gene]
  • LOC130000425:ATAC-STARR-seq lymphoblastoid active region 27398 [Gene]
  • LOC130000428:ATAC-STARR-seq lymphoblastoid active region 27399 [Gene]
  • LOC130000429:ATAC-STARR-seq lymphoblastoid active region 27400 [Gene]
  • LOC130000430:ATAC-STARR-seq lymphoblastoid active region 27401 [Gene]
  • LOC130000431:ATAC-STARR-seq lymphoblastoid active region 27402 [Gene]
  • LOC130000432:ATAC-STARR-seq lymphoblastoid active region 27403 [Gene]
  • LOC130000434:ATAC-STARR-seq lymphoblastoid active region 27404 [Gene]
  • LOC130000352:ATAC-STARR-seq lymphoblastoid silent region 19186 [Gene]
  • LOC130000356:ATAC-STARR-seq lymphoblastoid silent region 19187 [Gene]
  • LOC130000361:ATAC-STARR-seq lymphoblastoid silent region 19188 [Gene]
  • LOC130000362:ATAC-STARR-seq lymphoblastoid silent region 19189 [Gene]
  • LOC130000363:ATAC-STARR-seq lymphoblastoid silent region 19190 [Gene]
  • LOC130000364:ATAC-STARR-seq lymphoblastoid silent region 19191 [Gene]
  • LOC130000375:ATAC-STARR-seq lymphoblastoid silent region 19192 [Gene]
  • LOC130000379:ATAC-STARR-seq lymphoblastoid silent region 19193 [Gene]
  • LOC130000381:ATAC-STARR-seq lymphoblastoid silent region 19194 [Gene]
  • LOC130000382:ATAC-STARR-seq lymphoblastoid silent region 19195 [Gene]
  • LOC130000388:ATAC-STARR-seq lymphoblastoid silent region 19197 [Gene]
  • LOC130000389:ATAC-STARR-seq lymphoblastoid silent region 19198 [Gene]
  • LOC130000392:ATAC-STARR-seq lymphoblastoid silent region 19199 [Gene]
  • LOC130000394:ATAC-STARR-seq lymphoblastoid silent region 19200 [Gene]
  • LOC130000398:ATAC-STARR-seq lymphoblastoid silent region 19201 [Gene]
  • LOC130000399:ATAC-STARR-seq lymphoblastoid silent region 19202 [Gene]
  • LOC130000407:ATAC-STARR-seq lymphoblastoid silent region 19203 [Gene]
  • LOC130000408:ATAC-STARR-seq lymphoblastoid silent region 19204 [Gene]
  • LOC130000409:ATAC-STARR-seq lymphoblastoid silent region 19205 [Gene]
  • LOC130000410:ATAC-STARR-seq lymphoblastoid silent region 19206 [Gene]
  • LOC130000414:ATAC-STARR-seq lymphoblastoid silent region 19207 [Gene]
  • LOC130000417:ATAC-STARR-seq lymphoblastoid silent region 19208 [Gene]
  • LOC130000426:ATAC-STARR-seq lymphoblastoid silent region 19209 [Gene]
  • LOC130000427:ATAC-STARR-seq lymphoblastoid silent region 19210 [Gene]
  • LOC130000433:ATAC-STARR-seq lymphoblastoid silent region 19212 [Gene]
  • ATP6V1H:ATPase H+ transporting V1 subunit H [Gene - OMIM - HGNC]
  • LOC126860383:BRD4-independent group 4 enhancer GRCh37_chr8:50568577-50569776 [Gene]
  • LOC126860389:BRD4-independent group 4 enhancer GRCh37_chr8:54055436-54056635 [Gene]
  • LOC126860391:BRD4-independent group 4 enhancer GRCh37_chr8:55121526-55122725 [Gene]
  • LOC126860393:BRD4-independent group 4 enhancer GRCh37_chr8:55809304-55810503 [Gene]
  • LOC126860394:BRD4-independent group 4 enhancer GRCh37_chr8:56170973-56172172 [Gene]
  • LOC126860395:BRD4-independent group 4 enhancer GRCh37_chr8:57079228-57080427 [Gene]
  • LOC126860397:BRD4-independent group 4 enhancer GRCh37_chr8:58121391-58122590 [Gene]
  • LOC126860385:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:52307404-52308603 [Gene]
  • LOC126860392:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:55541319-55542518 [Gene]
  • LOC126860398:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:58476407-58477606 [Gene]
  • LOC116186928:CRISPRi-validated cis-regulatory element chr8.1663 [Gene]
  • LOC111365178:HNF4 and FOXA motif-containing MPRA enhancers 14 and 42 [Gene]
  • LYN:LYN proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • LOC126860384:MED14-independent group 3 enhancer GRCh37_chr8:52243645-52244844 [Gene]
  • LOC126860386:MED14-independent group 3 enhancer GRCh37_chr8:52837590-52838789 [Gene]
  • LOC126860387:MED14-independent group 3 enhancer GRCh37_chr8:53458378-53459577 [Gene]
  • MOS:MOS proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
  • LOC129389985:MPRA-validated peak7013 silencer [Gene]
  • LOC129389986:MPRA-validated peak7016 silencer [Gene]
  • LOC129389987:MPRA-validated peak7018 silencer [Gene]
  • LOC129389988:MPRA-validated peak7022 silencer [Gene]
  • LOC129389989:MPRA-validated peak7023 silencer [Gene]
  • LOC129389990:MPRA-validated peak7024 silencer [Gene]
  • LOC129389991:MPRA-validated peak7026 silencer [Gene]
  • LOC129389992:MPRA-validated peak7027 silencer [Gene]
  • LOC129389993:MPRA-validated peak7032 silencer [Gene]
  • LOC129389994:MPRA-validated peak7033 silencer [Gene]
  • LOC132090786:Neanderthal introgressed variant-containing enhancer experimental_103338 [Gene]
  • LOC126860388:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:53676283-53677482 [Gene]
  • LOC126860390:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:54640179-54641378 [Gene]
  • LOC111811969:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:54856969-54858168 [Gene]
  • LOC126860396:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:57302182-57303381 [Gene]
  • PCMTD1-DT:PCMTD1 divergent transcript [Gene - HGNC]
  • PENK-AS1:PENK antisense RNA 1 [Gene - HGNC]
  • PLAG1:PLAG1 zinc finger [Gene - OMIM - HGNC]
  • RB1CC1:RB1 inducible coiled-coil 1 [Gene - OMIM - HGNC]
  • RNU105C:RNA, U105C small nucleolar [Gene - HGNC]
  • RP1:RP1 axonemal microtubule associated [Gene - OMIM - HGNC]
  • SOX17:SRY-box transcription factor 17 [Gene - OMIM - HGNC]
  • ST18:ST18 C2H2C-type zinc finger transcription factor [Gene - OMIM - HGNC]
  • LOC108281129:ST18-FAM150A intergenic CAGE-defined low expression enhancer [Gene]
  • LOC124174256:Sharpr-MPRA regulatory region 11739 [Gene]
  • LOC124174254:Sharpr-MPRA regulatory region 1198 [Gene]
  • LOC124174255:Sharpr-MPRA regulatory region 131 [Gene]
  • LOC124174253:Sharpr-MPRA regulatory region 14468 [Gene]
  • LOC124174251:Sharpr-MPRA regulatory region 14710 [Gene]
  • LOC121331302:Sharpr-MPRA regulatory region 15011 [Gene]
  • LOC124174250:Sharpr-MPRA regulatory region 15467 [Gene]
  • LOC124174260:Sharpr-MPRA regulatory region 3559 [Gene]
  • LOC124174258:Sharpr-MPRA regulatory region 4485 [Gene]
  • LOC124174257:Sharpr-MPRA regulatory region 4705 [Gene]
  • LOC113788288:Sharpr-MPRA regulatory region 5071 [Gene]
  • LOC113788287:Sharpr-MPRA regulatory region 5984 [Gene]
  • LOC124174259:Sharpr-MPRA regulatory region 838 [Gene]
  • LOC124174252:Sharpr-MPRA regulatory region 8643 [Gene]
  • LOC110120748:VISTA enhancer hs698 [Gene]
  • XKR4:XK related 4 [Gene - HGNC]
  • XKR4-AS1:XKR4 antisense RNA 1 [Gene - HGNC]
  • CHCHD7:coiled-coil-helix-coiled-coil-helix domain containing 7 [Gene - OMIM - HGNC]
  • CERNA3:competing endogenous lncRNA 3 for miR-645 [Gene - HGNC]
  • LINC01606:long intergenic non-protein coding RNA 1606 [Gene - HGNC]
  • LINC02984:long intergenic non-protein coding RNA 2984 [Gene - HGNC]
  • LINC03018:long intergenic non-protein coding RNA 3018 [Gene - HGNC]
  • LINC00588:long intergenic non-protein coding RNA 588 [Gene - HGNC]
  • LINC00968:long intergenic non-protein coding RNA 968 [Gene - HGNC]
  • LYPLA1:lysophospholipase 1 [Gene - OMIM - HGNC]
  • MRPL15:mitochondrial ribosomal protein L15 [Gene - OMIM - HGNC]
  • NPBWR1:neuropeptides B and W receptor 1 [Gene - OMIM - HGNC]
  • OPRK1:opioid receptor kappa 1 [Gene - OMIM - HGNC]
  • PXDNL:peroxidasin like [Gene - OMIM - HGNC]
  • PENK:proenkephalin [Gene - OMIM - HGNC]
  • PCMTD1:protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 [Gene - OMIM - HGNC]
  • RGS20:regulator of G protein signaling 20 [Gene - OMIM - HGNC]
  • RPS20:ribosomal protein S20 [Gene - OMIM - HGNC]
  • SDR16C5:short chain dehydrogenase/reductase family 16C member 5 [Gene - OMIM - HGNC]
  • SNORD54:small nucleolar RNA, C/D box 54 [Gene - HGNC]
  • SNORA1B:small nucleolar RNA, H/ACA box 1B [Gene - HGNC]
  • SNTG1:syntrophin gamma 1 [Gene - OMIM - HGNC]
  • TCEA1:transcription elongation factor A1 [Gene - OMIM - HGNC]
  • TMEM68:transmembrane protein 68 [Gene - HGNC]
  • TGS1:trimethylguanosine synthase 1 [Gene - OMIM - HGNC]
  • LOC100129098:uncharacterized LOC100129098 [Gene]
  • LOC100507464:uncharacterized LOC100507464 [Gene]
  • LOC101929341:uncharacterized LOC101929341 [Gene]
  • LOC101929488:uncharacterized LOC101929488 [Gene]
  • LOC105375836:uncharacterized LOC105375836 [Gene]
  • LOC105375844:uncharacterized LOC105375844 [Gene]
  • LOC105375851:uncharacterized LOC105375851 [Gene]
  • LOC286177:uncharacterized LOC286177 [Gene]
Variant type:
copy number loss
Cytogenetic location:
8q11.21-12.1
Genomic location:
Preferred name:
GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1
HGVS:
  • NC_000008.11:g.(?_49471778)_(57825470_?)del
  • NC_000008.10:g.(?_50384337)_(58738029_?)del
  • NC_000008.9:g.(?_50546890)_(58900583_?)del
Links:
dbVar: nssv582955; dbVar: nsv533817
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
SCV000176587ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		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

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, SCV000176587.4

#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