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GRCh38/hg38 1p36.33(chr1:844347-2131805)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:
RCV000052043.6

Allele description [Variation Report for GRCh38/hg38 1p36.33(chr1:844347-2131805)x1]

GRCh38/hg38 1p36.33(chr1:844347-2131805)x1

Genes:
  • ANKRD65-AS1:ANKRD65 antisense RNA 1 [Gene - HGNC]
  • LOC129929080:ATAC-STARR-seq lymphoblastoid active region 11 [Gene]
  • LOC129929085:ATAC-STARR-seq lymphoblastoid active region 12 [Gene]
  • LOC129929097:ATAC-STARR-seq lymphoblastoid active region 13 [Gene]
  • LOC129929101:ATAC-STARR-seq lymphoblastoid active region 14 [Gene]
  • LOC129929124:ATAC-STARR-seq lymphoblastoid active region 16 [Gene]
  • LOC129929125:ATAC-STARR-seq lymphoblastoid active region 17 [Gene]
  • LOC129929126:ATAC-STARR-seq lymphoblastoid active region 19 [Gene]
  • LOC129929127:ATAC-STARR-seq lymphoblastoid active region 20 [Gene]
  • LOC129929128:ATAC-STARR-seq lymphoblastoid active region 21 [Gene]
  • LOC129929129:ATAC-STARR-seq lymphoblastoid active region 22 [Gene]
  • LOC129929132:ATAC-STARR-seq lymphoblastoid active region 23 [Gene]
  • LOC129929136:ATAC-STARR-seq lymphoblastoid active region 24 [Gene]
  • LOC129929137:ATAC-STARR-seq lymphoblastoid active region 25 [Gene]
  • LOC129929139:ATAC-STARR-seq lymphoblastoid active region 26 [Gene]
  • LOC129929142:ATAC-STARR-seq lymphoblastoid active region 27 [Gene]
  • LOC129929143:ATAC-STARR-seq lymphoblastoid active region 30 [Gene]
  • LOC129929144:ATAC-STARR-seq lymphoblastoid active region 31 [Gene]
  • LOC129929146:ATAC-STARR-seq lymphoblastoid active region 32 [Gene]
  • LOC129929149:ATAC-STARR-seq lymphoblastoid active region 33 [Gene]
  • LOC129929150:ATAC-STARR-seq lymphoblastoid active region 34 [Gene]
  • LOC129929151:ATAC-STARR-seq lymphoblastoid active region 35 [Gene]
  • LOC129929152:ATAC-STARR-seq lymphoblastoid active region 36 [Gene]
  • LOC129929153:ATAC-STARR-seq lymphoblastoid active region 38 [Gene]
  • LOC129929155:ATAC-STARR-seq lymphoblastoid active region 39 [Gene]
  • LOC129929156:ATAC-STARR-seq lymphoblastoid active region 40 [Gene]
  • LOC129929157:ATAC-STARR-seq lymphoblastoid active region 41 [Gene]
  • LOC129929158:ATAC-STARR-seq lymphoblastoid active region 42 [Gene]
  • LOC129929159:ATAC-STARR-seq lymphoblastoid active region 43 [Gene]
  • LOC129929160:ATAC-STARR-seq lymphoblastoid active region 44 [Gene]
  • LOC129929167:ATAC-STARR-seq lymphoblastoid active region 45 [Gene]
  • LOC129929172:ATAC-STARR-seq lymphoblastoid active region 46 [Gene]
  • LOC129929063:ATAC-STARR-seq lymphoblastoid active region 4 [Gene]
  • LOC129929074:ATAC-STARR-seq lymphoblastoid active region 6 [Gene]
  • LOC129929169:ATAC-STARR-seq lymphoblastoid silent region 101 [Gene]
  • LOC129929170:ATAC-STARR-seq lymphoblastoid silent region 102 [Gene]
  • LOC129929171:ATAC-STARR-seq lymphoblastoid silent region 103 [Gene]
  • LOC129929066:ATAC-STARR-seq lymphoblastoid silent region 10 [Gene]
  • LOC129929067:ATAC-STARR-seq lymphoblastoid silent region 11 [Gene]
  • LOC129929068:ATAC-STARR-seq lymphoblastoid silent region 12 [Gene]
  • LOC129929069:ATAC-STARR-seq lymphoblastoid silent region 13 [Gene]
  • LOC129929070:ATAC-STARR-seq lymphoblastoid silent region 14 [Gene]
  • LOC129929071:ATAC-STARR-seq lymphoblastoid silent region 15 [Gene]
  • LOC129929072:ATAC-STARR-seq lymphoblastoid silent region 16 [Gene]
  • LOC129929073:ATAC-STARR-seq lymphoblastoid silent region 17 [Gene]
  • LOC129929075:ATAC-STARR-seq lymphoblastoid silent region 18 [Gene]
  • LOC129929076:ATAC-STARR-seq lymphoblastoid silent region 22 [Gene]
  • LOC129929077:ATAC-STARR-seq lymphoblastoid silent region 23 [Gene]
  • LOC129929078:ATAC-STARR-seq lymphoblastoid silent region 24 [Gene]
  • LOC129929079:ATAC-STARR-seq lymphoblastoid silent region 26 [Gene]
  • LOC129929081:ATAC-STARR-seq lymphoblastoid silent region 27 [Gene]
  • LOC129929082:ATAC-STARR-seq lymphoblastoid silent region 28 [Gene]
  • LOC129929059:ATAC-STARR-seq lymphoblastoid silent region 2 [Gene]
  • LOC129929083:ATAC-STARR-seq lymphoblastoid silent region 30 [Gene]
  • LOC129929084:ATAC-STARR-seq lymphoblastoid silent region 31 [Gene]
  • LOC129929086:ATAC-STARR-seq lymphoblastoid silent region 32 [Gene]
  • LOC129929087:ATAC-STARR-seq lymphoblastoid silent region 33 [Gene]
  • LOC129929088:ATAC-STARR-seq lymphoblastoid silent region 34 [Gene]
  • LOC129929089:ATAC-STARR-seq lymphoblastoid silent region 35 [Gene]
  • LOC129929090:ATAC-STARR-seq lymphoblastoid silent region 36 [Gene]
  • LOC129929091:ATAC-STARR-seq lymphoblastoid silent region 37 [Gene]
  • LOC129929092:ATAC-STARR-seq lymphoblastoid silent region 38 [Gene]
  • LOC129929093:ATAC-STARR-seq lymphoblastoid silent region 39 [Gene]
  • LOC129929060:ATAC-STARR-seq lymphoblastoid silent region 3 [Gene]
  • LOC129929094:ATAC-STARR-seq lymphoblastoid silent region 40 [Gene]
  • LOC129929095:ATAC-STARR-seq lymphoblastoid silent region 41 [Gene]
  • LOC129929096:ATAC-STARR-seq lymphoblastoid silent region 42 [Gene]
  • LOC129929098:ATAC-STARR-seq lymphoblastoid silent region 43 [Gene]
  • LOC129929099:ATAC-STARR-seq lymphoblastoid silent region 44 [Gene]
  • LOC129929100:ATAC-STARR-seq lymphoblastoid silent region 47 [Gene]
  • LOC129929102:ATAC-STARR-seq lymphoblastoid silent region 49 [Gene]
  • LOC129929103:ATAC-STARR-seq lymphoblastoid silent region 50 [Gene]
  • LOC129929104:ATAC-STARR-seq lymphoblastoid silent region 51 [Gene]
  • LOC129929105:ATAC-STARR-seq lymphoblastoid silent region 52 [Gene]
  • LOC129929106:ATAC-STARR-seq lymphoblastoid silent region 53 [Gene]
  • LOC129929107:ATAC-STARR-seq lymphoblastoid silent region 54 [Gene]
  • LOC129929108:ATAC-STARR-seq lymphoblastoid silent region 55 [Gene]
  • LOC129929109:ATAC-STARR-seq lymphoblastoid silent region 56 [Gene]
  • LOC129929110:ATAC-STARR-seq lymphoblastoid silent region 57 [Gene]
  • LOC129929111:ATAC-STARR-seq lymphoblastoid silent region 58 [Gene]
  • LOC129929112:ATAC-STARR-seq lymphoblastoid silent region 59 [Gene]
  • LOC129929061:ATAC-STARR-seq lymphoblastoid silent region 5 [Gene]
  • LOC129929113:ATAC-STARR-seq lymphoblastoid silent region 60 [Gene]
  • LOC129929114:ATAC-STARR-seq lymphoblastoid silent region 61 [Gene]
  • LOC129929115:ATAC-STARR-seq lymphoblastoid silent region 62 [Gene]
  • LOC129929116:ATAC-STARR-seq lymphoblastoid silent region 63 [Gene]
  • LOC129929117:ATAC-STARR-seq lymphoblastoid silent region 64 [Gene]
  • LOC129929118:ATAC-STARR-seq lymphoblastoid silent region 65 [Gene]
  • LOC129929119:ATAC-STARR-seq lymphoblastoid silent region 66 [Gene]
  • LOC129929120:ATAC-STARR-seq lymphoblastoid silent region 67 [Gene]
  • LOC129929121:ATAC-STARR-seq lymphoblastoid silent region 69 [Gene]
  • LOC129929062:ATAC-STARR-seq lymphoblastoid silent region 6 [Gene]
  • LOC129929122:ATAC-STARR-seq lymphoblastoid silent region 70 [Gene]
  • LOC129929123:ATAC-STARR-seq lymphoblastoid silent region 71 [Gene]
  • LOC129929130:ATAC-STARR-seq lymphoblastoid silent region 75 [Gene]
  • LOC129929131:ATAC-STARR-seq lymphoblastoid silent region 76 [Gene]
  • LOC129929133:ATAC-STARR-seq lymphoblastoid silent region 77 [Gene]
  • LOC129929134:ATAC-STARR-seq lymphoblastoid silent region 78 [Gene]
  • LOC129929135:ATAC-STARR-seq lymphoblastoid silent region 79 [Gene]
  • LOC129929138:ATAC-STARR-seq lymphoblastoid silent region 80 [Gene]
  • LOC129929140:ATAC-STARR-seq lymphoblastoid silent region 83 [Gene]
  • LOC129929141:ATAC-STARR-seq lymphoblastoid silent region 84 [Gene]
  • LOC129929145:ATAC-STARR-seq lymphoblastoid silent region 88 [Gene]
  • LOC129929147:ATAC-STARR-seq lymphoblastoid silent region 89 [Gene]
  • LOC129929064:ATAC-STARR-seq lymphoblastoid silent region 8 [Gene]
  • LOC129929148:ATAC-STARR-seq lymphoblastoid silent region 90 [Gene]
  • LOC129929154:ATAC-STARR-seq lymphoblastoid silent region 91 [Gene]
  • LOC129929161:ATAC-STARR-seq lymphoblastoid silent region 92 [Gene]
  • LOC129929162:ATAC-STARR-seq lymphoblastoid silent region 93 [Gene]
  • LOC129929163:ATAC-STARR-seq lymphoblastoid silent region 94 [Gene]
  • LOC129929164:ATAC-STARR-seq lymphoblastoid silent region 95 [Gene]
  • LOC129929165:ATAC-STARR-seq lymphoblastoid silent region 96 [Gene]
  • LOC129929166:ATAC-STARR-seq lymphoblastoid silent region 97 [Gene]
  • LOC129929168:ATAC-STARR-seq lymphoblastoid silent region 98 [Gene]
  • LOC129929065:ATAC-STARR-seq lymphoblastoid silent region 9 [Gene]
  • ATAD3A:ATPase family AAA domain containing 3A [Gene - OMIM - HGNC]
  • ATAD3B:ATPase family AAA domain containing 3B [Gene - OMIM - HGNC]
  • ATAD3C:ATPase family AAA domain containing 3C [Gene - OMIM - HGNC]
  • ACAP3:ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 [Gene - HGNC]
  • LOC126805577:BRD4-independent group 4 enhancer GRCh37_chr1:1199775-1200974 [Gene]
  • C1QTNF12:C1q and TNF related 12 [Gene - OMIM - HGNC]
  • LOC126805578:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:1919795-1920994 [Gene]
  • LOC110599576:CEB15 minisatellite repeat instability region [Gene]
  • LOC115801415:CRISPRi-validated cis-regulatory element chr1.97 [Gene]
  • GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]
  • GNB1-DT:GNB1 divergent transcript [Gene - HGNC]
  • ISG15:ISG15 ubiquitin like modifier [Gene - OMIM - HGNC]
  • MIB2:MIB E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • LOC129388422:MPRA-validated peak11 silencer [Gene]
  • LOC129388419:MPRA-validated peak5 silencer [Gene]
  • LOC129388420:MPRA-validated peak6 silencer [Gene]
  • LOC129388421:MPRA-validated peak7 silencer [Gene]
  • MRPL20-AS1:MRPL20 antisense RNA 1 [Gene - HGNC]
  • MRPL20-DT:MRPL20 divergent transcript [Gene - HGNC]
  • NADK:NAD kinase [Gene - OMIM - HGNC]
  • NOC2L:NOC2 like nucleolar associated transcriptional repressor [Gene - OMIM - HGNC]
  • LOC132088605:Neanderthal introgressed variant-containing enhancer experimental_1556 [Gene]
  • LOC126805576:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:956772-957971 [Gene]
  • PERM1:PPARGC1 and ESRR induced regulator, muscle 1 [Gene - OMIM - HGNC]
  • PRKCZ-DT:PRKCZ divergent transcript [Gene - HGNC]
  • SSU72:SSU72 homolog, RNA polymerase II CTD phosphatase [Gene - OMIM - HGNC]
  • LOC121967045:Sharpr-MPRA regulatory region 10763 [Gene]
  • LOC121967048:Sharpr-MPRA regulatory region 11961 [Gene]
  • LOC112577469:Sharpr-MPRA regulatory region 13538 [Gene]
  • LOC121967046:Sharpr-MPRA regulatory region 14484 [Gene]
  • LOC121677382:Sharpr-MPRA regulatory region 15043 [Gene]
  • LOC121967044:Sharpr-MPRA regulatory region 185 [Gene]
  • LOC121967042:Sharpr-MPRA regulatory region 3626 [Gene]
  • LOC121967047:Sharpr-MPRA regulatory region 3728 [Gene]
  • LOC121967043:Sharpr-MPRA regulatory region 8235 [Gene]
  • TNFRSF18:TNF receptor superfamily member 18 [Gene - OMIM - HGNC]
  • TNFRSF4:TNF receptor superfamily member 4 [Gene - OMIM - HGNC]
  • TTLL10-AS1:TTLL10 antisense RNA 1 [Gene - HGNC]
  • AGRN:agrin [Gene - OMIM - HGNC]
  • ANKRD65:ankyrin repeat domain 65 [Gene - HGNC]
  • AURKAIP1:aurora kinase A interacting protein 1 [Gene - OMIM - HGNC]
  • B3GALT6:beta-1,3-galactosyltransferase 6 [Gene - OMIM - HGNC]
  • CALML6:calmodulin like 6 [Gene - OMIM - HGNC]
  • CPTP:ceramide-1-phosphate transfer protein [Gene - OMIM - HGNC]
  • C1orf159:chromosome 1 open reading frame 159 [Gene - HGNC]
  • CFAP74:cilia and flagella associated protein 74 [Gene - OMIM - HGNC]
  • LOC107985728:collagen alpha-1(III) chain-like [Gene]
  • LOC106783496:conserved acetylation island sequence 30 enhancer [Gene]
  • CCNL2:cyclin L2 [Gene - OMIM - HGNC]
  • CDK11A:cyclin dependent kinase 11A [Gene - OMIM - HGNC]
  • CDK11B:cyclin dependent kinase 11B [Gene - OMIM - HGNC]
  • DVL1:dishevelled segment polarity protein 1 [Gene - OMIM - HGNC]
  • FAM41C:family with sequence similarity 41 member C [Gene - HGNC]
  • FNDC10:fibronectin type III domain containing 10 [Gene - HGNC]
  • GABRD:gamma-aminobutyric acid type A receptor subunit delta [Gene - OMIM - HGNC]
  • HES4:hes family bHLH transcription factor 4 [Gene - OMIM - HGNC]
  • INTS11:integrator complex subunit 11 [Gene - OMIM - HGNC]
  • KLHL17:kelch like family member 17 [Gene - OMIM - HGNC]
  • LINC01128:long intergenic non-protein coding RNA 1128 [Gene - HGNC]
  • LINC01342:long intergenic non-protein coding RNA 1342 [Gene - HGNC]
  • LINC01770:long intergenic non-protein coding RNA 1770 [Gene - HGNC]
  • LINC01786:long intergenic non-protein coding RNA 1786 [Gene - HGNC]
  • LINC02593:long intergenic non-protein coding RNA 2593 [Gene - HGNC]
  • MMP23B:matrix metallopeptidase 23B [Gene - OMIM - HGNC]
  • MXRA8:matrix remodeling associated 8 [Gene - OMIM - HGNC]
  • MIR200A:microRNA 200a [Gene - OMIM - HGNC]
  • MIR200B:microRNA 200b [Gene - OMIM - HGNC]
  • MIR429:microRNA 429 [Gene - OMIM - HGNC]
  • MIR6726:microRNA 6726 [Gene - HGNC]
  • MIR6727:microRNA 6727 [Gene - HGNC]
  • MIR6808:microRNA 6808 [Gene - HGNC]
  • MRPL20:mitochondrial ribosomal protein L20 [Gene - OMIM - HGNC]
  • PLEKHN1:pleckstrin homology domain containing N1 [Gene - HGNC]
  • PRKCZ:protein kinase C zeta [Gene - OMIM - HGNC]
  • PUSL1:pseudouridine synthase like 1 [Gene - HGNC]
  • RNF223:ring finger protein 223 [Gene - HGNC]
  • SNORD167:small nucleolar RNA, C/D box 167 [Gene - HGNC]
  • SCNN1D:sodium channel epithelial 1 subunit delta [Gene - OMIM - HGNC]
  • SLC35E2A:solute carrier family 35 member E2A [Gene - HGNC]
  • SLC35E2B:solute carrier family 35 member E2B [Gene - OMIM - HGNC]
  • SAMD11:sterile alpha motif domain containing 11 [Gene - OMIM - HGNC]
  • SDF4:stromal cell derived factor 4 [Gene - OMIM - HGNC]
  • TAS1R3:taste 1 receptor member 3 [Gene - OMIM - HGNC]
  • TMEM240:transmembrane protein 240 [Gene - OMIM - HGNC]
  • TMEM52:transmembrane protein 52 [Gene - HGNC]
  • TMEM88B:transmembrane protein 88B [Gene - HGNC]
  • TTLL10:tubulin tyrosine ligase like 10 [Gene - HGNC]
  • UBE2J2:ubiquitin conjugating enzyme E2 J2 [Gene - OMIM - HGNC]
  • LOC100288175:uncharacterized LOC100288175 [Gene]
  • LOC105378586:uncharacterized LOC105378586 [Gene]
  • LOC105378948:uncharacterized LOC105378948 [Gene]
  • VWA1:von Willebrand factor A domain containing 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
GRCh38/hg38 1p36.33(chr1:844347-2131805)x1
HGVS:
  • NC_000001.11:g.(?_844347)_(2131805_?)del
  • NC_000001.10:g.(?_779727)_(2063244_?)del
  • NC_000001.9:g.(?_769590)_(2053104_?)del
Links:
dbVar: nssv577154; dbVar: nsv530756
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
SCV000079392ISCA site 17

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		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

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 17, SCV000079392.5

#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