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GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 25, 2013
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:
RCV000140643.7

Allele description [Variation Report for GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1]

GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1

Genes:
  • BPNT2:3'(2'), 5'-bisphosphate nucleotidase 2 [Gene - OMIM - HGNC]
  • 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]
  • LOC130000437:ATAC-STARR-seq lymphoblastoid active region 27405 [Gene]
  • LOC130000438:ATAC-STARR-seq lymphoblastoid active region 27406 [Gene]
  • LOC130000440:ATAC-STARR-seq lymphoblastoid active region 27407 [Gene]
  • LOC130000441:ATAC-STARR-seq lymphoblastoid active region 27408 [Gene]
  • LOC130000442:ATAC-STARR-seq lymphoblastoid active region 27409 [Gene]
  • LOC130000443:ATAC-STARR-seq lymphoblastoid active region 27410 [Gene]
  • LOC130000444:ATAC-STARR-seq lymphoblastoid active region 27412 [Gene]
  • LOC130000446:ATAC-STARR-seq lymphoblastoid active region 27414 [Gene]
  • LOC130000447:ATAC-STARR-seq lymphoblastoid active region 27415 [Gene]
  • LOC130000450:ATAC-STARR-seq lymphoblastoid active region 27416 [Gene]
  • LOC130000453:ATAC-STARR-seq lymphoblastoid active region 27417 [Gene]
  • LOC130000454:ATAC-STARR-seq lymphoblastoid active region 27418 [Gene]
  • LOC130000455:ATAC-STARR-seq lymphoblastoid active region 27419 [Gene]
  • LOC130000456:ATAC-STARR-seq lymphoblastoid active region 27420 [Gene]
  • LOC130000457:ATAC-STARR-seq lymphoblastoid active region 27421 [Gene]
  • LOC130000458:ATAC-STARR-seq lymphoblastoid active region 27422 [Gene]
  • LOC130000459:ATAC-STARR-seq lymphoblastoid active region 27423 [Gene]
  • LOC130000461:ATAC-STARR-seq lymphoblastoid active region 27424 [Gene]
  • LOC130000465:ATAC-STARR-seq lymphoblastoid active region 27425 [Gene]
  • LOC130000466:ATAC-STARR-seq lymphoblastoid active region 27426 [Gene]
  • LOC130000467:ATAC-STARR-seq lymphoblastoid active region 27427 [Gene]
  • LOC130000468:ATAC-STARR-seq lymphoblastoid active region 27428 [Gene]
  • LOC130000470:ATAC-STARR-seq lymphoblastoid active region 27429 [Gene]
  • LOC130000471:ATAC-STARR-seq lymphoblastoid active region 27430 [Gene]
  • LOC130000472:ATAC-STARR-seq lymphoblastoid active region 27431 [Gene]
  • LOC130000473:ATAC-STARR-seq lymphoblastoid active region 27433 [Gene]
  • LOC130000474:ATAC-STARR-seq lymphoblastoid active region 27434 [Gene]
  • LOC130000475:ATAC-STARR-seq lymphoblastoid active region 27435 [Gene]
  • LOC130000476:ATAC-STARR-seq lymphoblastoid active region 27436 [Gene]
  • LOC130000477:ATAC-STARR-seq lymphoblastoid active region 27437 [Gene]
  • LOC130000478:ATAC-STARR-seq lymphoblastoid active region 27438 [Gene]
  • LOC130000479:ATAC-STARR-seq lymphoblastoid active region 27439 [Gene]
  • LOC130000481:ATAC-STARR-seq lymphoblastoid active region 27440 [Gene]
  • LOC130000482:ATAC-STARR-seq lymphoblastoid active region 27441 [Gene]
  • LOC130000483:ATAC-STARR-seq lymphoblastoid active region 27442 [Gene]
  • LOC130000484:ATAC-STARR-seq lymphoblastoid active region 27443 [Gene]
  • LOC130000485:ATAC-STARR-seq lymphoblastoid active region 27444 [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]
  • LOC130000435:ATAC-STARR-seq lymphoblastoid silent region 19213 [Gene]
  • LOC130000436:ATAC-STARR-seq lymphoblastoid silent region 19214 [Gene]
  • LOC130000439:ATAC-STARR-seq lymphoblastoid silent region 19216 [Gene]
  • LOC130000445:ATAC-STARR-seq lymphoblastoid silent region 19219 [Gene]
  • LOC130000448:ATAC-STARR-seq lymphoblastoid silent region 19220 [Gene]
  • LOC130000449:ATAC-STARR-seq lymphoblastoid silent region 19221 [Gene]
  • LOC130000451:ATAC-STARR-seq lymphoblastoid silent region 19222 [Gene]
  • LOC130000452:ATAC-STARR-seq lymphoblastoid silent region 19223 [Gene]
  • LOC130000460:ATAC-STARR-seq lymphoblastoid silent region 19225 [Gene]
  • LOC130000462:ATAC-STARR-seq lymphoblastoid silent region 19227 [Gene]
  • LOC130000463:ATAC-STARR-seq lymphoblastoid silent region 19228 [Gene]
  • LOC130000464:ATAC-STARR-seq lymphoblastoid silent region 19229 [Gene]
  • LOC130000469:ATAC-STARR-seq lymphoblastoid silent region 19230 [Gene]
  • LOC130000480:ATAC-STARR-seq lymphoblastoid silent region 19233 [Gene]
  • LOC130000486:ATAC-STARR-seq lymphoblastoid silent region 19234 [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]
  • LOC126860399:BRD4-independent group 4 enhancer GRCh37_chr8:59108481-59109680 [Gene]
  • LOC126860400:BRD4-independent group 4 enhancer GRCh37_chr8:59404317-59405516 [Gene]
  • LOC126860398:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:58476407-58477606 [Gene]
  • LOC126860403:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:61693034-61694233 [Gene]
  • LOC126860404:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:61929973-61931172 [Gene]
  • LOC116186928:CRISPRi-validated cis-regulatory element chr8.1663 [Gene]
  • LOC116186929:CRISPRi-validated cis-regulatory element chr8.1767 [Gene]
  • LOC116186930:CRISPRi-validated cis-regulatory element chr8.1768 [Gene]
  • LOC116186931:CRISPRi-validated cis-regulatory element chr8.1769 [Gene]
  • LOC110596866:CYP7A1 5' regulatory region [Gene]
  • LOC111365178:HNF4 and FOXA motif-containing MPRA enhancers 14 and 42 [Gene]
  • LYN:LYN proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • LOC126860401:MED14-independent group 3 enhancer GRCh37_chr8:59507186-59508385 [Gene]
  • MOS:MOS proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
  • 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]
  • LOC129389995:MPRA-validated peak7034 silencer [Gene]
  • LOC129389996:MPRA-validated peak7040 silencer [Gene]
  • LOC129389997:MPRA-validated peak7043 silencer [Gene]
  • LOC129389998:MPRA-validated peak7046 silencer [Gene]
  • LOC126860396:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:57302182-57303381 [Gene]
  • LOC126860402:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:59754041-59755240 [Gene]
  • PENK-AS1:PENK antisense RNA 1 [Gene - HGNC]
  • PLAG1:PLAG1 zinc finger [Gene - OMIM - HGNC]
  • RAB2A:RAB2A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RP1:RP1 axonemal microtubule associated [Gene - OMIM - HGNC]
  • LOC124174263:Sharpr-MPRA regulatory region 10423 [Gene]
  • LOC124174256:Sharpr-MPRA regulatory region 11739 [Gene]
  • LOC113788290:Sharpr-MPRA regulatory region 12445 [Gene]
  • LOC124174255:Sharpr-MPRA regulatory region 131 [Gene]
  • LOC121331303:Sharpr-MPRA regulatory region 1495 [Gene]
  • LOC121331302:Sharpr-MPRA regulatory region 15011 [Gene]
  • LOC124174261:Sharpr-MPRA regulatory region 15202 [Gene]
  • LOC124174262:Sharpr-MPRA regulatory region 15457 [Gene]
  • LOC124174260:Sharpr-MPRA regulatory region 3559 [Gene]
  • LOC124174258:Sharpr-MPRA regulatory region 4485 [Gene]
  • LOC124174257:Sharpr-MPRA regulatory region 4705 [Gene]
  • LOC124174259:Sharpr-MPRA regulatory region 838 [Gene]
  • TOX-DT:TOX divergent transcript [Gene - HGNC]
  • UBXN2B:UBX domain protein 2B [Gene - OMIM - HGNC]
  • LOC110121059:VISTA enhancer hs1326 [Gene]
  • LOC110121079:VISTA enhancer hs1364 [Gene]
  • XKR4:XK related 4 [Gene - HGNC]
  • XKR4-AS1:XKR4 antisense RNA 1 [Gene - HGNC]
  • CA8:carbonic anhydrase 8 [Gene - OMIM - HGNC]
  • CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]
  • CLVS1:clavesin 1 [Gene - OMIM - HGNC]
  • CHCHD7:coiled-coil-helix-coiled-coil-helix domain containing 7 [Gene - OMIM - HGNC]
  • CERNA3:competing endogenous lncRNA 3 for miR-645 [Gene - HGNC]
  • CYP7A1:cytochrome P450 family 7 subfamily A member 1 [Gene - OMIM - HGNC]
  • FAM110B:family with sequence similarity 110 member B [Gene - OMIM - HGNC]
  • LOC100130298:hCG1816373-like [Gene]
  • LINC01301:long intergenic non-protein coding RNA 1301 [Gene - HGNC]
  • LINC01602:long intergenic non-protein coding RNA 1602 [Gene - HGNC]
  • LINC01606:long intergenic non-protein coding RNA 1606 [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]
  • LOC107436008:meiotic recombination hotspot G [Gene]
  • NSMAF:neutral sphingomyelinase activation associated factor [Gene - OMIM - HGNC]
  • PENK:proenkephalin [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]
  • SDCBP:syndecan binding protein [Gene - OMIM - HGNC]
  • TOX:thymocyte selection associated high mobility group box [Gene - OMIM - HGNC]
  • TMEM68:transmembrane protein 68 [Gene - HGNC]
  • TGS1:trimethylguanosine synthase 1 [Gene - OMIM - HGNC]
  • LOC101929488:uncharacterized LOC101929488 [Gene]
  • LOC101929528:uncharacterized LOC101929528 [Gene]
  • LOC105375844:uncharacterized LOC105375844 [Gene]
  • LOC105375851:uncharacterized LOC105375851 [Gene]
  • LOC105375938:uncharacterized LOC105375938 [Gene]
  • LOC286177:uncharacterized LOC286177 [Gene]
Variant type:
copy number loss
Cytogenetic location:
8q12.1-12.2
Genomic location:
Preferred name:
GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1
HGVS:
  • NC_000008.11:g.(?_54821357)_(61146302_?)del
  • NC_000008.10:g.(?_55733917)_(62058861_?)del
  • NC_000008.9:g.(?_55896471)_(62221415_?)del
Links:
dbVar: nssv1610016; dbVar: nsv931852
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000181349ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jan 25, 2013) 		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, SCV000181349.4

#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