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GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 14, 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:
RCV000141783.5

Allele description [Variation Report for GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1]

GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1

Genes:
  • APOBEC3B-AS1:APOBEC3B antisense RNA 1 [Gene - HGNC]
  • LOC130067371:ATAC-STARR-seq lymphoblastoid active region 18973 [Gene]
  • LOC130067372:ATAC-STARR-seq lymphoblastoid active region 18974 [Gene]
  • LOC130067373:ATAC-STARR-seq lymphoblastoid active region 18975 [Gene]
  • LOC130067375:ATAC-STARR-seq lymphoblastoid active region 18977 [Gene]
  • LOC130067376:ATAC-STARR-seq lymphoblastoid active region 18978 [Gene]
  • LOC130067377:ATAC-STARR-seq lymphoblastoid active region 18979 [Gene]
  • LOC130067379:ATAC-STARR-seq lymphoblastoid active region 18981 [Gene]
  • LOC130067380:ATAC-STARR-seq lymphoblastoid active region 18982 [Gene]
  • LOC130067381:ATAC-STARR-seq lymphoblastoid active region 18984 [Gene]
  • LOC130067384:ATAC-STARR-seq lymphoblastoid active region 18985 [Gene]
  • LOC130067385:ATAC-STARR-seq lymphoblastoid active region 18986 [Gene]
  • LOC130067396:ATAC-STARR-seq lymphoblastoid active region 18989 [Gene]
  • LOC130067397:ATAC-STARR-seq lymphoblastoid active region 18990 [Gene]
  • LOC130067399:ATAC-STARR-seq lymphoblastoid active region 18993 [Gene]
  • LOC130067400:ATAC-STARR-seq lymphoblastoid active region 18995 [Gene]
  • LOC130067401:ATAC-STARR-seq lymphoblastoid active region 18996 [Gene]
  • LOC130067402:ATAC-STARR-seq lymphoblastoid active region 18999 [Gene]
  • LOC130067410:ATAC-STARR-seq lymphoblastoid active region 19000 [Gene]
  • LOC130067411:ATAC-STARR-seq lymphoblastoid active region 19001 [Gene]
  • LOC130067412:ATAC-STARR-seq lymphoblastoid active region 19002 [Gene]
  • LOC130067414:ATAC-STARR-seq lymphoblastoid active region 19003 [Gene]
  • LOC130067415:ATAC-STARR-seq lymphoblastoid active region 19004 [Gene]
  • LOC130067416:ATAC-STARR-seq lymphoblastoid active region 19006 [Gene]
  • LOC130067417:ATAC-STARR-seq lymphoblastoid active region 19007 [Gene]
  • LOC130067418:ATAC-STARR-seq lymphoblastoid active region 19008 [Gene]
  • LOC130067419:ATAC-STARR-seq lymphoblastoid active region 19009 [Gene]
  • LOC130067421:ATAC-STARR-seq lymphoblastoid active region 19010 [Gene]
  • LOC130067428:ATAC-STARR-seq lymphoblastoid active region 19014 [Gene]
  • LOC130067430:ATAC-STARR-seq lymphoblastoid active region 19017 [Gene]
  • LOC130067431:ATAC-STARR-seq lymphoblastoid active region 19018 [Gene]
  • LOC130067432:ATAC-STARR-seq lymphoblastoid active region 19019 [Gene]
  • LOC130067435:ATAC-STARR-seq lymphoblastoid active region 19020 [Gene]
  • LOC130067436:ATAC-STARR-seq lymphoblastoid active region 19022 [Gene]
  • LOC130067443:ATAC-STARR-seq lymphoblastoid active region 19027 [Gene]
  • LOC130067447:ATAC-STARR-seq lymphoblastoid active region 19028 [Gene]
  • LOC130067448:ATAC-STARR-seq lymphoblastoid active region 19029 [Gene]
  • LOC130067374:ATAC-STARR-seq lymphoblastoid silent region 13687 [Gene]
  • LOC130067378:ATAC-STARR-seq lymphoblastoid silent region 13688 [Gene]
  • LOC130067382:ATAC-STARR-seq lymphoblastoid silent region 13689 [Gene]
  • LOC130067383:ATAC-STARR-seq lymphoblastoid silent region 13690 [Gene]
  • LOC130067386:ATAC-STARR-seq lymphoblastoid silent region 13692 [Gene]
  • LOC130067387:ATAC-STARR-seq lymphoblastoid silent region 13693 [Gene]
  • LOC130067388:ATAC-STARR-seq lymphoblastoid silent region 13695 [Gene]
  • LOC130067389:ATAC-STARR-seq lymphoblastoid silent region 13696 [Gene]
  • LOC130067390:ATAC-STARR-seq lymphoblastoid silent region 13697 [Gene]
  • LOC130067391:ATAC-STARR-seq lymphoblastoid silent region 13699 [Gene]
  • LOC130067392:ATAC-STARR-seq lymphoblastoid silent region 13700 [Gene]
  • LOC130067393:ATAC-STARR-seq lymphoblastoid silent region 13701 [Gene]
  • LOC130067394:ATAC-STARR-seq lymphoblastoid silent region 13702 [Gene]
  • LOC130067395:ATAC-STARR-seq lymphoblastoid silent region 13705 [Gene]
  • LOC130067398:ATAC-STARR-seq lymphoblastoid silent region 13706 [Gene]
  • LOC130067403:ATAC-STARR-seq lymphoblastoid silent region 13707 [Gene]
  • LOC130067404:ATAC-STARR-seq lymphoblastoid silent region 13708 [Gene]
  • LOC130067405:ATAC-STARR-seq lymphoblastoid silent region 13709 [Gene]
  • LOC130067406:ATAC-STARR-seq lymphoblastoid silent region 13710 [Gene]
  • LOC130067407:ATAC-STARR-seq lymphoblastoid silent region 13711 [Gene]
  • LOC130067408:ATAC-STARR-seq lymphoblastoid silent region 13712 [Gene]
  • LOC130067409:ATAC-STARR-seq lymphoblastoid silent region 13713 [Gene]
  • LOC130067413:ATAC-STARR-seq lymphoblastoid silent region 13714 [Gene]
  • LOC130067420:ATAC-STARR-seq lymphoblastoid silent region 13715 [Gene]
  • LOC130067422:ATAC-STARR-seq lymphoblastoid silent region 13716 [Gene]
  • LOC130067423:ATAC-STARR-seq lymphoblastoid silent region 13717 [Gene]
  • LOC130067424:ATAC-STARR-seq lymphoblastoid silent region 13718 [Gene]
  • LOC130067425:ATAC-STARR-seq lymphoblastoid silent region 13719 [Gene]
  • LOC130067426:ATAC-STARR-seq lymphoblastoid silent region 13720 [Gene]
  • LOC130067427:ATAC-STARR-seq lymphoblastoid silent region 13723 [Gene]
  • LOC130067429:ATAC-STARR-seq lymphoblastoid silent region 13726 [Gene]
  • LOC130067433:ATAC-STARR-seq lymphoblastoid silent region 13730 [Gene]
  • LOC130067434:ATAC-STARR-seq lymphoblastoid silent region 13731 [Gene]
  • LOC130067437:ATAC-STARR-seq lymphoblastoid silent region 13732 [Gene]
  • LOC130067438:ATAC-STARR-seq lymphoblastoid silent region 13733 [Gene]
  • LOC130067439:ATAC-STARR-seq lymphoblastoid silent region 13734 [Gene]
  • LOC130067440:ATAC-STARR-seq lymphoblastoid silent region 13735 [Gene]
  • LOC130067441:ATAC-STARR-seq lymphoblastoid silent region 13736 [Gene]
  • LOC130067442:ATAC-STARR-seq lymphoblastoid silent region 13737 [Gene]
  • LOC130067444:ATAC-STARR-seq lymphoblastoid silent region 13739 [Gene]
  • LOC130067445:ATAC-STARR-seq lymphoblastoid silent region 13740 [Gene]
  • LOC130067446:ATAC-STARR-seq lymphoblastoid silent region 13741 [Gene]
  • BAIAP2L2:BAR/IMD domain containing adaptor protein 2 like 2 [Gene - OMIM - HGNC]
  • LOC126863146:BRD4-independent group 4 enhancer GRCh37_chr22:38427029-38428228 [Gene]
  • LOC126863149:BRD4-independent group 4 enhancer GRCh37_chr22:39077750-39078949 [Gene]
  • LOC126863150:BRD4-independent group 4 enhancer GRCh37_chr22:39269364-39270563 [Gene]
  • LOC126863153:BRD4-independent group 4 enhancer GRCh37_chr22:39492371-39493570 [Gene]
  • CDC42EP1:CDC42 effector protein 1 [Gene - OMIM - HGNC]
  • LOC126863144:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:38147547-38148746 [Gene]
  • LOC126863145:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:38150829-38152028 [Gene]
  • LOC126863148:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:38694325-38695524 [Gene]
  • LOC116309133:CRISPRi-validated cis-regulatory element chr22.1757 [Gene]
  • LOC116309134:CRISPRi-validated cis-regulatory element chr22.1870 [Gene]
  • LOC116309135:CRISPRi-validated cis-regulatory element chr22.1887 [Gene]
  • DDX17:DEAD-box helicase 17 [Gene - OMIM - HGNC]
  • DMC1:DNA meiotic recombinase 1 [Gene - OMIM - HGNC]
  • LOC111556159:GATA motif-containing MPRA enhancer 128 [Gene]
  • GTPBP1:GTP binding protein 1 [Gene - OMIM - HGNC]
  • H1-0:H1.0 linker histone [Gene - OMIM - HGNC]
  • LOC111519898:HNF1 motif-containing MPRA enhancer 93 [Gene]
  • JOSD1:Josephin domain containing 1 [Gene - OMIM - HGNC]
  • KDELR3:KDEL endoplasmic reticulum protein retention receptor 3 [Gene - OMIM - HGNC]
  • MAFF:MAF bZIP transcription factor F [Gene - OMIM - HGNC]
  • MFNG:MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • MICALL1:MICAL like 1 [Gene - OMIM - HGNC]
  • LOC129391280:MPRA-validated peak4487 silencer [Gene]
  • LOC129391281:MPRA-validated peak4491 silencer [Gene]
  • LOC129391282:MPRA-validated peak4492 silencer [Gene]
  • LOC129391283:MPRA-validated peak4493 silencer [Gene]
  • LOC132090650:Neanderthal introgressed variant-containing enhancer experimental_63270 [Gene]
  • LOC132090651:Neanderthal introgressed variant-containing enhancer experimental_63315 [Gene]
  • LOC132090922:Neanderthal introgressed variant-containing enhancer experimental_63367 [Gene]
  • LOC132211115:Neanderthal introgressed variant-containing enhancers experimental_63385 and experimental_63387 [Gene]
  • LOC126863147:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:38614213-38615412 [Gene]
  • LOC126863151:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:39380734-39381933 [Gene]
  • LOC126863152:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:39445317-39446516 [Gene]
  • PDXP-DT:PDXP divergent transcript [Gene - HGNC]
  • POLR2F:RNA polymerase II, I and III subunit F [Gene - OMIM - HGNC]
  • SH3BP1:SH3 domain binding protein 1 [Gene - OMIM - HGNC]
  • SOX10:SRY-box transcription factor 10 [Gene - OMIM - HGNC]
  • SUN2:Sad1 and UNC84 domain containing 2 [Gene - OMIM - HGNC]
  • LOC125446231:Sharpr-MPRA regulatory region 10481 [Gene]
  • LOC121853043:Sharpr-MPRA regulatory region 10540 [Gene]
  • LOC125446232:Sharpr-MPRA regulatory region 5684 [Gene]
  • LOC112695092:Sharpr-MPRA regulatory region 6169 [Gene]
  • LOC125446230:Sharpr-MPRA regulatory region 7746 [Gene]
  • LOC112695090:Sharpr-MPRA regulatory region 8034 [Gene]
  • LOC121627941:Sharpr-MPRA regulatory region 8537 [Gene]
  • LOC125446233:Sharpr-MPRA regulatory region 8587 [Gene]
  • TMEM184B-AS1:TMEM184B antisense RNA 1 [Gene - HGNC]
  • TPTEP2-CSNK1E:TPTEP2-CSNK1E readthrough [Gene - HGNC]
  • TRIOBP:TRIO and F-actin binding protein [Gene - OMIM - HGNC]
  • LOC110120880:VISTA enhancer hs486 [Gene]
  • LOC110120882:VISTA enhancer hs491 [Gene]
  • LOC110120883:VISTA enhancer hs492 [Gene]
  • LOC110120893:VISTA enhancer hs564 [Gene]
  • ANKRD54:ankyrin repeat domain 54 [Gene - OMIM - HGNC]
  • APOBEC3A:apolipoprotein B mRNA editing enzyme catalytic subunit 3A [Gene - OMIM - HGNC]
  • APOBEC3B:apolipoprotein B mRNA editing enzyme catalytic subunit 3B [Gene - OMIM - HGNC]
  • APOBEC3C:apolipoprotein B mRNA editing enzyme catalytic subunit 3C [Gene - OMIM - HGNC]
  • APOBEC3D:apolipoprotein B mRNA editing enzyme catalytic subunit 3D [Gene - OMIM - HGNC]
  • APOBEC3F:apolipoprotein B mRNA editing enzyme catalytic subunit 3F [Gene - OMIM - HGNC]
  • APOBEC3G:apolipoprotein B mRNA editing enzyme catalytic subunit 3G [Gene - OMIM - HGNC]
  • APOBEC3H:apolipoprotein B mRNA editing enzyme catalytic subunit 3H [Gene - OMIM - HGNC]
  • CSNK1E:casein kinase 1 epsilon [Gene - OMIM - HGNC]
  • CARD10:caspase recruitment domain family member 10 [Gene - OMIM - HGNC]
  • CBY1:chibby 1, beta catenin antagonist [Gene - OMIM - HGNC]
  • CBX6:chromobox 6 [Gene - OMIM - HGNC]
  • C22orf23:chromosome 22 open reading frame 23 [Gene - OMIM - HGNC]
  • DNAL4:dynein axonemal light chain 4 [Gene - OMIM - HGNC]
  • EIF3L:eukaryotic translation initiation factor 3 subunit L [Gene - OMIM - HGNC]
  • FAM227A:family with sequence similarity 227 member A [Gene - HGNC]
  • GALR3:galanin receptor 3 [Gene - OMIM - HGNC]
  • LGALS1:galectin 1 [Gene - OMIM - HGNC]
  • LGALS2:galectin 2 [Gene - OMIM - HGNC]
  • GCAT:glycine C-acetyltransferase [Gene - OMIM - HGNC]
  • GGA1:golgi associated, gamma adaptin ear containing, ARF binding protein 1 [Gene - OMIM - HGNC]
  • LOC128772428:melanoma risk locus-associated MPRA allelic enhancer 22:38561911 [Gene]
  • LOC128772429:melanoma risk locus-associated MPRA allelic enhancer 22:38570189 [Gene]
  • LOC128706667:melanoma risk locus-associated MPRA allelic enhancer 22:38572440 [Gene]
  • LOC128772430:melanoma risk locus-associated MPRA allelic enhancer 22:38580917 [Gene]
  • LOC128772431:melanoma risk locus-associated MPRA allelic enhancer 22:38600595 [Gene]
  • LOC128772432:melanoma risk locus-associated MPRA allelic enhancer 22:38603571 [Gene]
  • LOC128772433:melanoma risk locus-associated MPRA allelic enhancer 22:38607237 [Gene]
  • LOC128772434:melanoma risk locus-associated MPRA allelic enhancer 22:38607534 [Gene]
  • LOC128772435:melanoma risk locus-associated MPRA allelic enhancer 22:38608227 [Gene]
  • MIR4534:microRNA 4534 [Gene - HGNC]
  • MIR658:microRNA 658 [Gene - HGNC]
  • MIR659:microRNA 659 [Gene - OMIM - HGNC]
  • MIR6820:microRNA 6820 [Gene - HGNC]
  • NPTXR:neuronal pentraxin receptor [Gene - OMIM - HGNC]
  • NOL12:nucleolar protein 12 [Gene - HGNC]
  • PLA2G6:phospholipase A2 group VI [Gene - OMIM - HGNC]
  • KCNJ4:potassium inwardly rectifying channel subfamily J member 4 [Gene - OMIM - HGNC]
  • PICK1:protein interacting with PRKCA 1 [Gene - OMIM - HGNC]
  • PDXP:pyridoxal phosphatase [Gene - OMIM - HGNC]
  • SNORA92:small nucleolar RNA, H/ACA box 92 [Gene - HGNC]
  • SLC16A8:solute carrier family 16 member 8 [Gene - OMIM - HGNC]
  • TOMM22:translocase of outer mitochondrial membrane 22 [Gene - OMIM - HGNC]
  • TMEM184B:transmembrane protein 184B [Gene - HGNC]
  • LOC102724378:uncharacterized LOC102724378 [Gene]
  • LOC105373031:uncharacterized LOC105373031 [Gene]
Variant type:
copy number loss
Cytogenetic location:
22q13.1
Genomic location:
Preferred name:
GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1
HGVS:
  • NC_000022.11:g.(?_37447222)_(39103680_?)del
  • NC_000022.10:g.(?_37843259)_(39499685_?)del
  • NC_000022.9:g.(?_36173205)_(37829631_?)del
Links:
dbVar: nssv3396925; dbVar: nsv995356
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
SCV000182780ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(May 14, 2013) 		unknownclinical 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, SCV000182780.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024