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GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)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:
RCV000053433.5

Allele description

GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1

Genes:
  • LOC114803472:ABCC3 (B) eExon liver enhancer [Gene]
  • ANKRD40CL:ANKRD40 C-terminal like [Gene - HGNC]
  • LOC130061139:ATAC-STARR-seq lymphoblastoid active region 12376 [Gene]
  • LOC130061141:ATAC-STARR-seq lymphoblastoid active region 12377 [Gene]
  • LOC130061146:ATAC-STARR-seq lymphoblastoid active region 12379 [Gene]
  • LOC130061155:ATAC-STARR-seq lymphoblastoid active region 12380 [Gene]
  • LOC130061158:ATAC-STARR-seq lymphoblastoid active region 12381 [Gene]
  • LOC130061162:ATAC-STARR-seq lymphoblastoid active region 12382 [Gene]
  • LOC130061163:ATAC-STARR-seq lymphoblastoid active region 12383 [Gene]
  • LOC130061167:ATAC-STARR-seq lymphoblastoid active region 12384 [Gene]
  • LOC130061168:ATAC-STARR-seq lymphoblastoid active region 12385 [Gene]
  • LOC130061169:ATAC-STARR-seq lymphoblastoid active region 12386 [Gene]
  • LOC130061174:ATAC-STARR-seq lymphoblastoid active region 12387 [Gene]
  • LOC130061180:ATAC-STARR-seq lymphoblastoid active region 12388 [Gene]
  • LOC130061183:ATAC-STARR-seq lymphoblastoid active region 12389 [Gene]
  • LOC130061184:ATAC-STARR-seq lymphoblastoid active region 12390 [Gene]
  • LOC130061185:ATAC-STARR-seq lymphoblastoid active region 12391 [Gene]
  • LOC130061186:ATAC-STARR-seq lymphoblastoid active region 12392 [Gene]
  • LOC130061188:ATAC-STARR-seq lymphoblastoid active region 12393 [Gene]
  • LOC130061191:ATAC-STARR-seq lymphoblastoid active region 12394 [Gene]
  • LOC130061195:ATAC-STARR-seq lymphoblastoid active region 12395 [Gene]
  • LOC130061196:ATAC-STARR-seq lymphoblastoid active region 12396 [Gene]
  • LOC130061197:ATAC-STARR-seq lymphoblastoid active region 12397 [Gene]
  • LOC130061200:ATAC-STARR-seq lymphoblastoid active region 12398 [Gene]
  • LOC130061201:ATAC-STARR-seq lymphoblastoid active region 12400 [Gene]
  • LOC130061206:ATAC-STARR-seq lymphoblastoid active region 12402 [Gene]
  • LOC130061207:ATAC-STARR-seq lymphoblastoid active region 12403 [Gene]
  • LOC130061208:ATAC-STARR-seq lymphoblastoid active region 12404 [Gene]
  • LOC130061210:ATAC-STARR-seq lymphoblastoid active region 12405 [Gene]
  • LOC130061211:ATAC-STARR-seq lymphoblastoid active region 12406 [Gene]
  • LOC130061212:ATAC-STARR-seq lymphoblastoid active region 12407 [Gene]
  • LOC130061213:ATAC-STARR-seq lymphoblastoid active region 12412 [Gene]
  • LOC130061214:ATAC-STARR-seq lymphoblastoid active region 12413 [Gene]
  • LOC130061215:ATAC-STARR-seq lymphoblastoid active region 12414 [Gene]
  • LOC130061221:ATAC-STARR-seq lymphoblastoid active region 12415 [Gene]
  • LOC130061138:ATAC-STARR-seq lymphoblastoid silent region 8677 [Gene]
  • LOC130061140:ATAC-STARR-seq lymphoblastoid silent region 8678 [Gene]
  • LOC130061142:ATAC-STARR-seq lymphoblastoid silent region 8679 [Gene]
  • LOC130061143:ATAC-STARR-seq lymphoblastoid silent region 8680 [Gene]
  • LOC130061144:ATAC-STARR-seq lymphoblastoid silent region 8681 [Gene]
  • LOC130061145:ATAC-STARR-seq lymphoblastoid silent region 8682 [Gene]
  • LOC130061147:ATAC-STARR-seq lymphoblastoid silent region 8683 [Gene]
  • LOC130061148:ATAC-STARR-seq lymphoblastoid silent region 8684 [Gene]
  • LOC130061149:ATAC-STARR-seq lymphoblastoid silent region 8685 [Gene]
  • LOC130061150:ATAC-STARR-seq lymphoblastoid silent region 8686 [Gene]
  • LOC130061151:ATAC-STARR-seq lymphoblastoid silent region 8687 [Gene]
  • LOC130061152:ATAC-STARR-seq lymphoblastoid silent region 8689 [Gene]
  • LOC130061153:ATAC-STARR-seq lymphoblastoid silent region 8690 [Gene]
  • LOC130061154:ATAC-STARR-seq lymphoblastoid silent region 8691 [Gene]
  • LOC130061156:ATAC-STARR-seq lymphoblastoid silent region 8692 [Gene]
  • LOC130061157:ATAC-STARR-seq lymphoblastoid silent region 8693 [Gene]
  • LOC130061159:ATAC-STARR-seq lymphoblastoid silent region 8694 [Gene]
  • LOC130061160:ATAC-STARR-seq lymphoblastoid silent region 8695 [Gene]
  • LOC130061161:ATAC-STARR-seq lymphoblastoid silent region 8696 [Gene]
  • LOC130061164:ATAC-STARR-seq lymphoblastoid silent region 8697 [Gene]
  • LOC130061165:ATAC-STARR-seq lymphoblastoid silent region 8699 [Gene]
  • LOC130061166:ATAC-STARR-seq lymphoblastoid silent region 8700 [Gene]
  • LOC130061170:ATAC-STARR-seq lymphoblastoid silent region 8701 [Gene]
  • LOC130061171:ATAC-STARR-seq lymphoblastoid silent region 8702 [Gene]
  • LOC130061172:ATAC-STARR-seq lymphoblastoid silent region 8703 [Gene]
  • LOC130061173:ATAC-STARR-seq lymphoblastoid silent region 8704 [Gene]
  • LOC130061175:ATAC-STARR-seq lymphoblastoid silent region 8705 [Gene]
  • LOC130061176:ATAC-STARR-seq lymphoblastoid silent region 8706 [Gene]
  • LOC130061177:ATAC-STARR-seq lymphoblastoid silent region 8707 [Gene]
  • LOC130061178:ATAC-STARR-seq lymphoblastoid silent region 8708 [Gene]
  • LOC130061179:ATAC-STARR-seq lymphoblastoid silent region 8709 [Gene]
  • LOC130061181:ATAC-STARR-seq lymphoblastoid silent region 8710 [Gene]
  • LOC130061182:ATAC-STARR-seq lymphoblastoid silent region 8711 [Gene]
  • LOC130061187:ATAC-STARR-seq lymphoblastoid silent region 8712 [Gene]
  • LOC130061189:ATAC-STARR-seq lymphoblastoid silent region 8713 [Gene]
  • LOC130061190:ATAC-STARR-seq lymphoblastoid silent region 8714 [Gene]
  • LOC130061192:ATAC-STARR-seq lymphoblastoid silent region 8715 [Gene]
  • LOC130061193:ATAC-STARR-seq lymphoblastoid silent region 8716 [Gene]
  • LOC130061194:ATAC-STARR-seq lymphoblastoid silent region 8717 [Gene]
  • LOC130061198:ATAC-STARR-seq lymphoblastoid silent region 8721 [Gene]
  • LOC130061199:ATAC-STARR-seq lymphoblastoid silent region 8722 [Gene]
  • LOC130061202:ATAC-STARR-seq lymphoblastoid silent region 8725 [Gene]
  • LOC130061203:ATAC-STARR-seq lymphoblastoid silent region 8726 [Gene]
  • LOC130061204:ATAC-STARR-seq lymphoblastoid silent region 8727 [Gene]
  • LOC130061205:ATAC-STARR-seq lymphoblastoid silent region 8728 [Gene]
  • LOC130061209:ATAC-STARR-seq lymphoblastoid silent region 8729 [Gene]
  • LOC130061216:ATAC-STARR-seq lymphoblastoid silent region 8730 [Gene]
  • LOC130061217:ATAC-STARR-seq lymphoblastoid silent region 8731 [Gene]
  • LOC130061218:ATAC-STARR-seq lymphoblastoid silent region 8732 [Gene]
  • LOC130061219:ATAC-STARR-seq lymphoblastoid silent region 8733 [Gene]
  • LOC130061220:ATAC-STARR-seq lymphoblastoid silent region 8734 [Gene]
  • LOC130061222:ATAC-STARR-seq lymphoblastoid silent region 8735 [Gene]
  • LOC130061223:ATAC-STARR-seq lymphoblastoid silent region 8736 [Gene]
  • LOC130061224:ATAC-STARR-seq lymphoblastoid silent region 8737 [Gene]
  • LOC130061225:ATAC-STARR-seq lymphoblastoid silent region 8738 [Gene]
  • LOC130061226:ATAC-STARR-seq lymphoblastoid silent region 8739 [Gene]
  • ABCC3:ATP binding cassette subfamily C member 3 [Gene - OMIM - HGNC]
  • CACNA1G-AS1:CACNA1G antisense RNA 1 [Gene - HGNC]
  • LOC126862586:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901 [Gene]
  • LOC126862590:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:49230233-49231432 [Gene]
  • LOC126862591:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:50104733-50105932 [Gene]
  • LOC126862598:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:54776085-54777284 [Gene]
  • LOC116276473:CRISPRi-validated cis-regulatory element chr17.3603 [Gene]
  • LOC116276474:CRISPRi-validated cis-regulatory element chr17.3823 [Gene]
  • HLF:HLF transcription factor, PAR bZIP family member [Gene - OMIM - HGNC]
  • LUC7L3:LUC7 like 3 pre-mRNA splicing factor [Gene - OMIM - HGNC]
  • LOC126862585:MED14-independent group 3 enhancer GRCh37_chr17:48184631-48185830 [Gene]
  • LOC126862589:MED14-independent group 3 enhancer GRCh37_chr17:49031243-49032442 [Gene]
  • LOC126862592:MED14-independent group 3 enhancer GRCh37_chr17:50197634-50198833 [Gene]
  • LOC126862594:MED14-independent group 3 enhancer GRCh37_chr17:51693716-51694915 [Gene]
  • LOC126862595:MED14-independent group 3 enhancer GRCh37_chr17:53653375-53654574 [Gene]
  • LOC126862596:MED14-independent group 3 enhancer GRCh37_chr17:54299024-54300223 [Gene]
  • LOC126862597:MED14-independent group 3 enhancer GRCh37_chr17:54436362-54437561 [Gene]
  • LOC129390887:MPRA-validated peak2888 silencer [Gene]
  • LOC129390888:MPRA-validated peak2890 silencer [Gene]
  • LOC129390889:MPRA-validated peak2891 silencer [Gene]
  • LOC129390890:MPRA-validated peak2897 silencer [Gene]
  • LOC129390891:MPRA-validated peak2899 silencer [Gene]
  • LOC129390892:MPRA-validated peak2901 silencer [Gene]
  • LOC129390893:MPRA-validated peak2902 silencer [Gene]
  • LOC129390894:MPRA-validated peak2903 silencer [Gene]
  • LOC129390895:MPRA-validated peak2904 silencer [Gene]
  • MYCBPAP:MYCBP associated protein [Gene - OMIM - HGNC]
  • NME1:NME/NM23 nucleoside diphosphate kinase 1 [Gene - OMIM - HGNC]
  • NME2:NME/NM23 nucleoside diphosphate kinase 2 [Gene - OMIM - HGNC]
  • NME1-NME2:NME1-NME2 readthrough [Gene - HGNC]
  • LOC126862584:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48141472-48142671 [Gene]
  • LOC126862587:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48715992-48717191 [Gene]
  • LOC126862588:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48738547-48739746 [Gene]
  • LOC126862593:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:50750682-50751881 [Gene]
  • LOC126862599:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:54863850-54865049 [Gene]
  • LOC125177501:Sharpr-MPRA regulatory region 10047 [Gene]
  • LOC112533650:Sharpr-MPRA regulatory region 10059 [Gene]
  • LOC125177508:Sharpr-MPRA regulatory region 10137 [Gene]
  • LOC121587603:Sharpr-MPRA regulatory region 10605 [Gene]
  • LOC125177507:Sharpr-MPRA regulatory region 1122 [Gene]
  • LOC125177502:Sharpr-MPRA regulatory region 13074 [Gene]
  • LOC112533649:Sharpr-MPRA regulatory region 13843 [Gene]
  • LOC121852939:Sharpr-MPRA regulatory region 1443 [Gene]
  • LOC125177514:Sharpr-MPRA regulatory region 14534 [Gene]
  • LOC125177510:Sharpr-MPRA regulatory region 175 [Gene]
  • LOC125177504:Sharpr-MPRA regulatory region 2031 [Gene]
  • LOC121587602:Sharpr-MPRA regulatory region 2475 [Gene]
  • LOC125177500:Sharpr-MPRA regulatory region 4171 [Gene]
  • LOC125177509:Sharpr-MPRA regulatory region 484 [Gene]
  • LOC125177505:Sharpr-MPRA regulatory region 5668 [Gene]
  • LOC125177503:Sharpr-MPRA regulatory region 5804 [Gene]
  • LOC112533648:Sharpr-MPRA regulatory region 5931 [Gene]
  • LOC125177513:Sharpr-MPRA regulatory region 8574 [Gene]
  • LOC112533651:Sharpr-MPRA regulatory region 9450 [Gene]
  • LOC121587601:Sharpr-MPRA regulatory region 9980 [Gene]
  • LOC125177512:Sharpr-MPRA regulatory regions 2486 and 1497 [Gene]
  • TMEM92-AS1:TMEM92 antisense RNA 1 [Gene - HGNC]
  • TOB1-AS1:TOB1 antisense RNA 1 [Gene - HGNC]
  • UTP18:UTP18 small subunit processome component [Gene - OMIM - HGNC]
  • LOC110121501:VISTA enhancer hs2291 [Gene]
  • WFIKKN2:WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 [Gene - OMIM - HGNC]
  • ACSF2:acyl-CoA synthetase family member 2 [Gene - OMIM - HGNC]
  • ANKFN1:ankyrin repeat and fibronectin type III domain containing 1 [Gene - HGNC]
  • ANKRD40:ankyrin repeat domain 40 [Gene - HGNC]
  • CACNA1G:calcium voltage-gated channel subunit alpha1 G [Gene - OMIM - HGNC]
  • LOC109609706:carbonic anhydrase 10 repeat instability region [Gene]
  • CA10:carbonic anhydrase 10 [Gene - OMIM - HGNC]
  • CHAD:chondroadherin [Gene - OMIM - HGNC]
  • C17orf67:chromosome 17 open reading frame 67 [Gene - HGNC]
  • COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
  • COX11:cytochrome c oxidase copper chaperone COX11 [Gene - OMIM - HGNC]
  • DLX3:distal-less homeobox 3 [Gene - OMIM - HGNC]
  • DLX4:distal-less homeobox 4 [Gene - OMIM - HGNC]
  • EPN3:epsin 3 [Gene - OMIM - HGNC]
  • EME1:essential meiotic structure-specific endonuclease 1 [Gene - OMIM - HGNC]
  • ITGA3:integrin subunit alpha 3 [Gene - OMIM - HGNC]
  • KIF2B:kinesin family member 2B [Gene - OMIM - HGNC]
  • LRRC59:leucine rich repeat containing 59 [Gene - OMIM - HGNC]
  • LINC01969:long intergenic non-protein coding RNA 1969 [Gene - HGNC]
  • LINC01982:long intergenic non-protein coding RNA 1982 [Gene - HGNC]
  • LINC02071:long intergenic non-protein coding RNA 2071 [Gene - HGNC]
  • LINC02072:long intergenic non-protein coding RNA 2072 [Gene - HGNC]
  • LINC02073:long intergenic non-protein coding RNA 2073 [Gene - HGNC]
  • LINC02089:long intergenic non-protein coding RNA 2089 [Gene - HGNC]
  • LINC02876:long intergenic non-protein coding RNA 2876 [Gene - HGNC]
  • MBTD1:mbt domain containing 1 [Gene - OMIM - HGNC]
  • MIR8059:microRNA 8059 [Gene - HGNC]
  • MRPL27:mitochondrial ribosomal protein L27 [Gene - OMIM - HGNC]
  • MMD:monocyte to macrophage differentiation associated [Gene - OMIM - HGNC]
  • NOG:noggin [Gene - OMIM - HGNC]
  • PICART1:p53 inducible cancer associated RNA transcript 1 [Gene - HGNC]
  • PCTP:phosphatidylcholine transfer protein [Gene - OMIM - HGNC]
  • PPP1R9B:protein phosphatase 1 regulatory subunit 9B [Gene - OMIM - HGNC]
  • PDK2:pyruvate dehydrogenase kinase 2 [Gene - OMIM - HGNC]
  • RSAD1:radical S-adenosyl methionine domain containing 1 [Gene - HGNC]
  • SGCA:sarcoglycan alpha [Gene - OMIM - HGNC]
  • SMIM36:small integral membrane protein 36 [Gene - HGNC]
  • SPAG9:sperm associated antigen 9 [Gene - OMIM - HGNC]
  • SPATA20:spermatogenesis associated 20 [Gene - OMIM - HGNC]
  • SAMD14:sterile alpha motif domain containing 14 [Gene - OMIM - HGNC]
  • STXBP4:syntaxin binding protein 4 [Gene - OMIM - HGNC]
  • TOM1L1:target of myb1 like 1 membrane trafficking protein [Gene - OMIM - HGNC]
  • TOB1:transducer of ERBB2, 1 [Gene - OMIM - HGNC]
  • TMEM100:transmembrane protein 100 [Gene - OMIM - HGNC]
  • TMEM92:transmembrane protein 92 [Gene - OMIM - HGNC]
  • LOC105371824:uncharacterized LOC105371824 [Gene]
  • XYLT2:xylosyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
17q21.33-22
Genomic location:
Preferred name:
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1
HGVS:
  • NC_000017.11:g.(?_49974533)_(56807609_?)del
  • NC_000017.10:g.(?_48051897)_(54884970_?)del
  • NC_000017.9:g.(?_45406896)_(52239969_?)del
Links:
dbVar: nssv577606; dbVar: nsv532115
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
SCV000080791ISCA site 17

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 17, SCV000080791.5

#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