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GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3 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:
RCV000053534.6

Allele description

GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3

Genes:
  • LOC129998452:ATAC-STARR-seq lymphoblastoid active region 26009 [Gene]
  • LOC129998453:ATAC-STARR-seq lymphoblastoid active region 26010 [Gene]
  • LOC129998454:ATAC-STARR-seq lymphoblastoid active region 26011 [Gene]
  • LOC129998457:ATAC-STARR-seq lymphoblastoid active region 26012 [Gene]
  • LOC129998459:ATAC-STARR-seq lymphoblastoid active region 26013 [Gene]
  • LOC129998460:ATAC-STARR-seq lymphoblastoid active region 26014 [Gene]
  • LOC129998461:ATAC-STARR-seq lymphoblastoid active region 26015 [Gene]
  • LOC129998462:ATAC-STARR-seq lymphoblastoid active region 26016 [Gene]
  • LOC129998463:ATAC-STARR-seq lymphoblastoid active region 26017 [Gene]
  • LOC129998464:ATAC-STARR-seq lymphoblastoid active region 26018 [Gene]
  • LOC129998465:ATAC-STARR-seq lymphoblastoid active region 26019 [Gene]
  • LOC129998466:ATAC-STARR-seq lymphoblastoid active region 26020 [Gene]
  • LOC129998467:ATAC-STARR-seq lymphoblastoid active region 26021 [Gene]
  • LOC129998468:ATAC-STARR-seq lymphoblastoid active region 26024 [Gene]
  • LOC129998469:ATAC-STARR-seq lymphoblastoid active region 26025 [Gene]
  • LOC129998470:ATAC-STARR-seq lymphoblastoid active region 26026 [Gene]
  • LOC129998471:ATAC-STARR-seq lymphoblastoid active region 26027 [Gene]
  • LOC129998472:ATAC-STARR-seq lymphoblastoid active region 26028 [Gene]
  • LOC129998473:ATAC-STARR-seq lymphoblastoid active region 26029 [Gene]
  • LOC129998474:ATAC-STARR-seq lymphoblastoid active region 26030 [Gene]
  • LOC129998475:ATAC-STARR-seq lymphoblastoid active region 26031 [Gene]
  • LOC129998476:ATAC-STARR-seq lymphoblastoid active region 26032 [Gene]
  • LOC129998477:ATAC-STARR-seq lymphoblastoid active region 26033 [Gene]
  • LOC129998478:ATAC-STARR-seq lymphoblastoid active region 26034 [Gene]
  • LOC129998479:ATAC-STARR-seq lymphoblastoid active region 26035 [Gene]
  • LOC129998480:ATAC-STARR-seq lymphoblastoid active region 26036 [Gene]
  • LOC129998481:ATAC-STARR-seq lymphoblastoid active region 26037 [Gene]
  • LOC129998482:ATAC-STARR-seq lymphoblastoid active region 26038 [Gene]
  • LOC129998484:ATAC-STARR-seq lymphoblastoid active region 26039 [Gene]
  • LOC129998486:ATAC-STARR-seq lymphoblastoid active region 26040 [Gene]
  • LOC129998487:ATAC-STARR-seq lymphoblastoid active region 26041 [Gene]
  • LOC129998488:ATAC-STARR-seq lymphoblastoid active region 26042 [Gene]
  • LOC129998489:ATAC-STARR-seq lymphoblastoid active region 26043 [Gene]
  • LOC129998490:ATAC-STARR-seq lymphoblastoid active region 26044 [Gene]
  • LOC129998492:ATAC-STARR-seq lymphoblastoid active region 26045 [Gene]
  • LOC129998493:ATAC-STARR-seq lymphoblastoid active region 26046 [Gene]
  • LOC129998494:ATAC-STARR-seq lymphoblastoid active region 26047 [Gene]
  • LOC129998495:ATAC-STARR-seq lymphoblastoid active region 26048 [Gene]
  • LOC129998497:ATAC-STARR-seq lymphoblastoid active region 26049 [Gene]
  • LOC129998499:ATAC-STARR-seq lymphoblastoid active region 26050 [Gene]
  • LOC129998500:ATAC-STARR-seq lymphoblastoid active region 26051 [Gene]
  • LOC129998501:ATAC-STARR-seq lymphoblastoid active region 26052 [Gene]
  • LOC129998502:ATAC-STARR-seq lymphoblastoid active region 26053 [Gene]
  • LOC129998503:ATAC-STARR-seq lymphoblastoid active region 26054 [Gene]
  • LOC129998504:ATAC-STARR-seq lymphoblastoid active region 26055 [Gene]
  • LOC129998505:ATAC-STARR-seq lymphoblastoid active region 26056 [Gene]
  • LOC129998506:ATAC-STARR-seq lymphoblastoid active region 26057 [Gene]
  • LOC129998507:ATAC-STARR-seq lymphoblastoid active region 26058 [Gene]
  • LOC129998509:ATAC-STARR-seq lymphoblastoid active region 26060 [Gene]
  • LOC129998510:ATAC-STARR-seq lymphoblastoid active region 26061 [Gene]
  • LOC129998511:ATAC-STARR-seq lymphoblastoid active region 26062 [Gene]
  • LOC129998512:ATAC-STARR-seq lymphoblastoid active region 26063 [Gene]
  • LOC129998513:ATAC-STARR-seq lymphoblastoid active region 26070 [Gene]
  • LOC129998516:ATAC-STARR-seq lymphoblastoid active region 26072 [Gene]
  • LOC129998517:ATAC-STARR-seq lymphoblastoid active region 26073 [Gene]
  • LOC129998519:ATAC-STARR-seq lymphoblastoid active region 26074 [Gene]
  • LOC129998520:ATAC-STARR-seq lymphoblastoid active region 26075 [Gene]
  • LOC129998523:ATAC-STARR-seq lymphoblastoid active region 26076 [Gene]
  • LOC129998524:ATAC-STARR-seq lymphoblastoid active region 26079 [Gene]
  • LOC129998526:ATAC-STARR-seq lymphoblastoid active region 26080 [Gene]
  • LOC129998527:ATAC-STARR-seq lymphoblastoid active region 26081 [Gene]
  • LOC129998530:ATAC-STARR-seq lymphoblastoid active region 26083 [Gene]
  • LOC129998534:ATAC-STARR-seq lymphoblastoid active region 26084 [Gene]
  • LOC129998535:ATAC-STARR-seq lymphoblastoid active region 26085 [Gene]
  • LOC129998536:ATAC-STARR-seq lymphoblastoid active region 26086 [Gene]
  • LOC129998537:ATAC-STARR-seq lymphoblastoid active region 26087 [Gene]
  • LOC129998538:ATAC-STARR-seq lymphoblastoid active region 26088 [Gene]
  • LOC129998540:ATAC-STARR-seq lymphoblastoid active region 26090 [Gene]
  • LOC129998542:ATAC-STARR-seq lymphoblastoid active region 26091 [Gene]
  • LOC129998544:ATAC-STARR-seq lymphoblastoid active region 26092 [Gene]
  • LOC129998450:ATAC-STARR-seq lymphoblastoid silent region 18184 [Gene]
  • LOC129998451:ATAC-STARR-seq lymphoblastoid silent region 18185 [Gene]
  • LOC129998455:ATAC-STARR-seq lymphoblastoid silent region 18186 [Gene]
  • LOC129998456:ATAC-STARR-seq lymphoblastoid silent region 18187 [Gene]
  • LOC129998458:ATAC-STARR-seq lymphoblastoid silent region 18188 [Gene]
  • LOC129998483:ATAC-STARR-seq lymphoblastoid silent region 18189 [Gene]
  • LOC129998485:ATAC-STARR-seq lymphoblastoid silent region 18190 [Gene]
  • LOC129929054:ATAC-STARR-seq lymphoblastoid silent region 18191 [Gene]
  • LOC129998491:ATAC-STARR-seq lymphoblastoid silent region 18192 [Gene]
  • LOC129998496:ATAC-STARR-seq lymphoblastoid silent region 18194 [Gene]
  • LOC129998498:ATAC-STARR-seq lymphoblastoid silent region 18195 [Gene]
  • LOC129998508:ATAC-STARR-seq lymphoblastoid silent region 18196 [Gene]
  • LOC129998514:ATAC-STARR-seq lymphoblastoid silent region 18197 [Gene]
  • LOC129998515:ATAC-STARR-seq lymphoblastoid silent region 18198 [Gene]
  • LOC129998518:ATAC-STARR-seq lymphoblastoid silent region 18199 [Gene]
  • LOC129998521:ATAC-STARR-seq lymphoblastoid silent region 18200 [Gene]
  • LOC129998522:ATAC-STARR-seq lymphoblastoid silent region 18202 [Gene]
  • LOC129998525:ATAC-STARR-seq lymphoblastoid silent region 18203 [Gene]
  • LOC129998528:ATAC-STARR-seq lymphoblastoid silent region 18204 [Gene]
  • LOC129998529:ATAC-STARR-seq lymphoblastoid silent region 18205 [Gene]
  • LOC129998531:ATAC-STARR-seq lymphoblastoid silent region 18207 [Gene]
  • LOC129998532:ATAC-STARR-seq lymphoblastoid silent region 18209 [Gene]
  • LOC129998533:ATAC-STARR-seq lymphoblastoid silent region 18210 [Gene]
  • LOC129998539:ATAC-STARR-seq lymphoblastoid silent region 18216 [Gene]
  • LOC129998541:ATAC-STARR-seq lymphoblastoid silent region 18218 [Gene]
  • LOC129998543:ATAC-STARR-seq lymphoblastoid silent region 18219 [Gene]
  • LOC129998545:ATAC-STARR-seq lymphoblastoid silent region 18220 [Gene]
  • LOC126860043:BRD4-independent group 4 enhancer GRCh37_chr7:54582481-54583680 [Gene]
  • LOC126860049:BRD4-independent group 4 enhancer GRCh37_chr7:55307850-55309049 [Gene]
  • LOC126860052:BRD4-independent group 4 enhancer GRCh37_chr7:55979512-55980711 [Gene]
  • LOC126860050:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:55560767-55561966 [Gene]
  • LOC126860057:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:66415389-66416588 [Gene]
  • LOC126860059:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:67378113-67379312 [Gene]
  • LOC126860060:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:67583393-67584592 [Gene]
  • CRCP:CGRP receptor component [Gene - OMIM - HGNC]
  • LOC116183090:CRISPRi-validated cis-regulatory element chr7.2319 [Gene]
  • EGFR-AS1:EGFR antisense RNA 1 [Gene - HGNC]
  • ELDR:EGFR long non-coding downstream RNA [Gene - OMIM - HGNC]
  • ERV3-1-ZNF117:ERV3-1-ZNF117 readthrough [Gene]
  • LANCL2:LanC like glutathione S-transferase 2 [Gene - OMIM - HGNC]
  • LOC126860046:MED14-independent group 3 enhancer GRCh37_chr7:55141370-55142569 [Gene]
  • LOC126860051:MED14-independent group 3 enhancer GRCh37_chr7:55774944-55776143 [Gene]
  • LOC126860053:MED14-independent group 3 enhancer GRCh37_chr7:56859189-56860388 [Gene]
  • LOC126860054:MED14-independent group 3 enhancer GRCh37_chr7:63244112-63245311 [Gene]
  • LOC126860055:MED14-independent group 3 enhancer GRCh37_chr7:65432190-65433389 [Gene]
  • LOC126860056:MED14-independent group 3 enhancer GRCh37_chr7:65612993-65614192 [Gene]
  • LOC126860058:MED14-independent group 3 enhancer GRCh37_chr7:66809463-66810662 [Gene]
  • LOC126860061:MED14-independent group 3 enhancer GRCh37_chr7:67710694-67711893 [Gene]
  • MIR3147HG:MIR3147 host gene [Gene - HGNC]
  • LOC129389796:MPRA-validated peak6524 silencer [Gene]
  • LOC129389797:MPRA-validated peak6528 silencer [Gene]
  • LOC129389798:MPRA-validated peak6529 silencer [Gene]
  • LOC129389799:MPRA-validated peak6531 silencer [Gene]
  • LOC129389800:MPRA-validated peak6534 silencer [Gene]
  • LOC129389801:MPRA-validated peak6535 silencer [Gene]
  • LOC129389802:MPRA-validated peak6536 silencer [Gene]
  • LOC129389803:MPRA-validated peak6540 silencer [Gene]
  • LOC129389804:MPRA-validated peak6545 silencer [Gene]
  • LOC129389805:MPRA-validated peak6547 silencer [Gene]
  • LOC129389806:MPRA-validated peak6548 silencer [Gene]
  • LOC129389807:MPRA-validated peak6549 silencer [Gene]
  • LOC129389808:MPRA-validated peak6550 silencer [Gene]
  • LOC129389809:MPRA-validated peak6551 silencer [Gene]
  • LOC129389810:MPRA-validated peak6556 silencer [Gene]
  • LOC132089552:Neanderthal introgressed variant-containing enhancer experimental_99715 [Gene]
  • LOC132089553:Neanderthal introgressed variant-containing enhancer experimental_99850 [Gene]
  • LOC126860044:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:54898510-54899709 [Gene]
  • LOC126860045:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:55052801-55054000 [Gene]
  • LOC126860047:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:55200333-55201532 [Gene]
  • LOC126860048:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:55223847-55225046 [Gene]
  • LOC126860062:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:67974239-67975438 [Gene]
  • RABGEF1:RAB guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
  • SBDS:SBDS ribosome maturation factor [Gene - OMIM - HGNC]
  • SEC61G:SEC61 translocon subunit gamma [Gene - OMIM - HGNC]
  • SEC61G-DT:SEC61G divergent transcript [Gene - HGNC]
  • LOC123956151:Sharpr-MPRA regulatory region 1113 [Gene]
  • LOC123956155:Sharpr-MPRA regulatory region 11837 [Gene]
  • LOC113748403:Sharpr-MPRA regulatory region 12132 [Gene]
  • LOC113748404:Sharpr-MPRA regulatory region 12375 [Gene]
  • LOC121740683:Sharpr-MPRA regulatory region 14266 [Gene]
  • LOC121175344:Sharpr-MPRA regulatory region 2601 [Gene]
  • LOC123956154:Sharpr-MPRA regulatory region 6763 [Gene]
  • LOC123956152:Sharpr-MPRA regulatory region 7863 [Gene]
  • LOC113748405:Sharpr-MPRA regulatory region 7945 [Gene]
  • LOC121740685:Sharpr-MPRA regulatory region 817 [Gene]
  • LOC123956156:Sharpr-MPRA regulatory region 9158 [Gene]
  • LOC121740684:Sharpr-MPRA regulatory region 9636 [Gene]
  • VSTM2A:V-set and transmembrane domain containing 2A [Gene - HGNC]
  • VOPP1:VOPP1 WW domain binding protein [Gene - OMIM - HGNC]
  • VOPP1-DT:VOPP1 divergent transcript [Gene - HGNC]
  • VSTM2A-OT1:VSTM2A overlapping transcript 1 [Gene - HGNC]
  • ASL:argininosuccinate lyase [Gene - OMIM - HGNC]
  • CICP24:capicua transcriptional repressor pseudogene 24 [Gene - HGNC]
  • CCT6A:chaperonin containing TCP1 subunit 6A [Gene - OMIM - HGNC]
  • CHCHD2:coiled-coil-helix-coiled-coil-helix domain containing 2 [Gene - OMIM - HGNC]
  • ERV3-1:endogenous retrovirus group 3 member 1, envelope [Gene - OMIM - HGNC]
  • EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]
  • FRA7A:fragile site, folic acid type, rare, fra(7)(p11.2) [Gene - HGNC]
  • GUSB:glucuronidase beta [Gene - OMIM - HGNC]
  • LINC01005:long intergenic non-protein coding RNA 1005 [Gene - HGNC]
  • LINC01372:long intergenic non-protein coding RNA 1372 [Gene - HGNC]
  • LINC01445:long intergenic non-protein coding RNA 1445 [Gene - HGNC]
  • LINC01446:long intergenic non-protein coding RNA 1446 [Gene - HGNC]
  • LINC00174:long intergenic non-protein coding RNA 174 [Gene - HGNC]
  • LINC02604:long intergenic non-protein coding RNA 2604 [Gene - HGNC]
  • LINC02848:long intergenic non-protein coding RNA 2848 [Gene - HGNC]
  • LINC03006:long intergenic non-protein coding RNA 3006 [Gene - HGNC]
  • LINC03011:long intergenic non-protein coding RNA 3011 [Gene - HGNC]
  • MIR3147:microRNA 3147 [Gene - HGNC]
  • MIR4283-1:microRNA 4283-1 [Gene - HGNC]
  • MIR4283-2:microRNA 4283-2 [Gene - HGNC]
  • MIR4650-1:microRNA 4650-1 [Gene - HGNC]
  • MIR6839:microRNA 6839 [Gene - HGNC]
  • MRPS17:mitochondrial ribosomal protein S17 [Gene - OMIM - HGNC]
  • LOC120766156:negCOR silencer S2 [Gene]
  • NIPSNAP2:nipsnap homolog 2 [Gene - OMIM - HGNC]
  • NUPR2:nuclear protein 2, transcriptional regulator [Gene - HGNC]
  • PHKG1:phosphorylase kinase catalytic subunit gamma 1 [Gene - OMIM - HGNC]
  • PSPH:phosphoserine phosphatase [Gene - OMIM - HGNC]
  • KCTD7:potassium channel tetramerization domain containing 7 [Gene - OMIM - HGNC]
  • SEPTIN14:septin 14 [Gene - OMIM - HGNC]
  • SNORA15:small nucleolar RNA, H/ACA box 15 [Gene - HGNC]
  • SNORA15B-1:small nucleolar RNA, H/ACA box 15B-1 [Gene - HGNC]
  • SNORA15B-2:small nucleolar RNA, H/ACA box 15B-2 [Gene - HGNC]
  • SNORA22:small nucleolar RNA, H/ACA box 22 [Gene - HGNC]
  • SNORA22B:small nucleolar RNA, H/ACA box 22B [Gene - HGNC]
  • SNORA22C:small nucleolar RNA, H/ACA box 22C [Gene - HGNC]
  • SPDYE21:speedy/RINGO cell cycle regulator family member E21 [Gene - HGNC]
  • SUMF2:sulfatase modifying factor 2 [Gene - OMIM - HGNC]
  • TYW1:tRNA-yW synthesizing protein 1 homolog [Gene - OMIM - HGNC]
  • TMEM248:transmembrane protein 248 [Gene - HGNC]
  • TPST1:tyrosylprotein sulfotransferase 1 [Gene - OMIM - HGNC]
  • GS1-278J22.2:uncharacterized GS1-278J22.2 [Gene]
  • LOC100128885:uncharacterized LOC100128885 [Gene]
  • LOC100240728:uncharacterized LOC100240728 [Gene]
  • LOC100287704:uncharacterized LOC100287704 [Gene]
  • LOC100287834:uncharacterized LOC100287834 [Gene]
  • LOC100996437:uncharacterized LOC100996437 [Gene]
  • LOC101928401:uncharacterized LOC101928401 [Gene]
  • LOC101929050:uncharacterized LOC101929050 [Gene]
  • LOC102723427:uncharacterized LOC102723427 [Gene]
  • LOC105375297:uncharacterized LOC105375297 [Gene]
  • LOC105375341:uncharacterized LOC105375341 [Gene]
  • LOC401357:uncharacterized LOC401357 [Gene]
  • DKFZp434L192:uncharacterized protein DKFZp434L192 [Gene]
  • VKORC1L1:vitamin K epoxide reductase complex subunit 1 like 1 [Gene - OMIM - HGNC]
  • ZNF107:zinc finger protein 107 [Gene - OMIM - HGNC]
  • ZNF117:zinc finger protein 117 [Gene - OMIM - HGNC]
  • ZNF138:zinc finger protein 138 [Gene - OMIM - HGNC]
  • ZNF273:zinc finger protein 273 [Gene - OMIM - HGNC]
  • ZNF479:zinc finger protein 479 [Gene - OMIM - HGNC]
  • ZNF679:zinc finger protein 679 [Gene - HGNC]
  • ZNF680:zinc finger protein 680 [Gene - HGNC]
  • ZNF713:zinc finger protein 713 [Gene - OMIM - HGNC]
  • ZNF716:zinc finger protein 716 [Gene - HGNC]
  • ZNF722:zinc finger protein 722 [Gene - HGNC]
  • ZNF727:zinc finger protein 727 [Gene - HGNC]
  • ZNF735:zinc finger protein 735 [Gene - HGNC]
  • ZNF736:zinc finger protein 736 [Gene - HGNC]
  • ZNF92:zinc finger protein 92 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7p12.1-q11.22
Genomic location:
Preferred name:
GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3
HGVS:
  • NC_000007.14:g.(?_53274059)_(68576213_?)dup
  • NC_000007.12:g.(?_53309246)_(67679136_?)dup
  • NC_000007.13:g.(?_53341752)_(68041200_?)dup
Links:
dbVar: nssv579048; dbVar: nsv532208
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
SCV000080892ISCA 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, SCV000080892.4

#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