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GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)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:
RCV000050705.7

Allele description [Variation Report for GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3]

GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3

Genes:
  • LOC129999013:ATAC-STARR-seq lymphoblastoid active region 26408 [Gene]
  • LOC129999014:ATAC-STARR-seq lymphoblastoid active region 26409 [Gene]
  • LOC129999021:ATAC-STARR-seq lymphoblastoid active region 26410 [Gene]
  • LOC129999022:ATAC-STARR-seq lymphoblastoid active region 26411 [Gene]
  • LOC129999024:ATAC-STARR-seq lymphoblastoid active region 26413 [Gene]
  • LOC129999025:ATAC-STARR-seq lymphoblastoid active region 26414 [Gene]
  • LOC129999026:ATAC-STARR-seq lymphoblastoid active region 26417 [Gene]
  • LOC129999027:ATAC-STARR-seq lymphoblastoid active region 26418 [Gene]
  • LOC129999028:ATAC-STARR-seq lymphoblastoid active region 26419 [Gene]
  • LOC129999029:ATAC-STARR-seq lymphoblastoid active region 26420 [Gene]
  • LOC129999033:ATAC-STARR-seq lymphoblastoid active region 26421 [Gene]
  • LOC129999034:ATAC-STARR-seq lymphoblastoid active region 26422 [Gene]
  • LOC129999035:ATAC-STARR-seq lymphoblastoid active region 26423 [Gene]
  • LOC129999037:ATAC-STARR-seq lymphoblastoid active region 26425 [Gene]
  • LOC129999038:ATAC-STARR-seq lymphoblastoid active region 26426 [Gene]
  • LOC129999040:ATAC-STARR-seq lymphoblastoid active region 26427 [Gene]
  • LOC129999042:ATAC-STARR-seq lymphoblastoid active region 26429 [Gene]
  • LOC129999043:ATAC-STARR-seq lymphoblastoid active region 26430 [Gene]
  • LOC129999044:ATAC-STARR-seq lymphoblastoid active region 26431 [Gene]
  • LOC129999045:ATAC-STARR-seq lymphoblastoid active region 26433 [Gene]
  • LOC129999048:ATAC-STARR-seq lymphoblastoid active region 26434 [Gene]
  • LOC129999049:ATAC-STARR-seq lymphoblastoid active region 26435 [Gene]
  • LOC129999050:ATAC-STARR-seq lymphoblastoid active region 26437 [Gene]
  • LOC129999052:ATAC-STARR-seq lymphoblastoid active region 26438 [Gene]
  • LOC129999053:ATAC-STARR-seq lymphoblastoid active region 26439 [Gene]
  • LOC129999055:ATAC-STARR-seq lymphoblastoid active region 26440 [Gene]
  • LOC129999056:ATAC-STARR-seq lymphoblastoid active region 26441 [Gene]
  • LOC129999057:ATAC-STARR-seq lymphoblastoid active region 26442 [Gene]
  • LOC129999059:ATAC-STARR-seq lymphoblastoid active region 26443 [Gene]
  • LOC129999060:ATAC-STARR-seq lymphoblastoid active region 26444 [Gene]
  • LOC129999061:ATAC-STARR-seq lymphoblastoid active region 26445 [Gene]
  • LOC129999062:ATAC-STARR-seq lymphoblastoid active region 26446 [Gene]
  • LOC129999063:ATAC-STARR-seq lymphoblastoid active region 26447 [Gene]
  • LOC129999064:ATAC-STARR-seq lymphoblastoid active region 26448 [Gene]
  • LOC129999065:ATAC-STARR-seq lymphoblastoid active region 26450 [Gene]
  • LOC129999066:ATAC-STARR-seq lymphoblastoid active region 26451 [Gene]
  • LOC129999067:ATAC-STARR-seq lymphoblastoid active region 26452 [Gene]
  • LOC129999068:ATAC-STARR-seq lymphoblastoid active region 26453 [Gene]
  • LOC129999069:ATAC-STARR-seq lymphoblastoid active region 26454 [Gene]
  • LOC129999071:ATAC-STARR-seq lymphoblastoid active region 26456 [Gene]
  • LOC129999073:ATAC-STARR-seq lymphoblastoid active region 26457 [Gene]
  • LOC129999076:ATAC-STARR-seq lymphoblastoid active region 26458 [Gene]
  • LOC129999077:ATAC-STARR-seq lymphoblastoid active region 26459 [Gene]
  • LOC129999078:ATAC-STARR-seq lymphoblastoid active region 26460 [Gene]
  • LOC129999079:ATAC-STARR-seq lymphoblastoid active region 26461 [Gene]
  • LOC129999011:ATAC-STARR-seq lymphoblastoid silent region 18486 [Gene]
  • LOC129999012:ATAC-STARR-seq lymphoblastoid silent region 18487 [Gene]
  • LOC129999015:ATAC-STARR-seq lymphoblastoid silent region 18489 [Gene]
  • LOC129999016:ATAC-STARR-seq lymphoblastoid silent region 18490 [Gene]
  • LOC129999017:ATAC-STARR-seq lymphoblastoid silent region 18493 [Gene]
  • LOC129999018:ATAC-STARR-seq lymphoblastoid silent region 18494 [Gene]
  • LOC129999019:ATAC-STARR-seq lymphoblastoid silent region 18495 [Gene]
  • LOC129999020:ATAC-STARR-seq lymphoblastoid silent region 18496 [Gene]
  • LOC129999023:ATAC-STARR-seq lymphoblastoid silent region 18497 [Gene]
  • LOC129999030:ATAC-STARR-seq lymphoblastoid silent region 18498 [Gene]
  • LOC129999031:ATAC-STARR-seq lymphoblastoid silent region 18499 [Gene]
  • LOC129999032:ATAC-STARR-seq lymphoblastoid silent region 18500 [Gene]
  • LOC129999036:ATAC-STARR-seq lymphoblastoid silent region 18501 [Gene]
  • LOC129999039:ATAC-STARR-seq lymphoblastoid silent region 18502 [Gene]
  • LOC129999041:ATAC-STARR-seq lymphoblastoid silent region 18503 [Gene]
  • LOC129999046:ATAC-STARR-seq lymphoblastoid silent region 18504 [Gene]
  • LOC129999047:ATAC-STARR-seq lymphoblastoid silent region 18505 [Gene]
  • LOC129999051:ATAC-STARR-seq lymphoblastoid silent region 18509 [Gene]
  • LOC129999054:ATAC-STARR-seq lymphoblastoid silent region 18510 [Gene]
  • LOC129999058:ATAC-STARR-seq lymphoblastoid silent region 18511 [Gene]
  • LOC129999070:ATAC-STARR-seq lymphoblastoid silent region 18512 [Gene]
  • LOC129999072:ATAC-STARR-seq lymphoblastoid silent region 18513 [Gene]
  • LOC129999074:ATAC-STARR-seq lymphoblastoid silent region 18514 [Gene]
  • LOC129999075:ATAC-STARR-seq lymphoblastoid silent region 18515 [Gene]
  • LOC129999080:ATAC-STARR-seq lymphoblastoid silent region 18516 [Gene]
  • LOC129999081:ATAC-STARR-seq lymphoblastoid silent region 18517 [Gene]
  • LOC129999082:ATAC-STARR-seq lymphoblastoid silent region 18518 [Gene]
  • LOC129999083:ATAC-STARR-seq lymphoblastoid silent region 18519 [Gene]
  • LOC129999084:ATAC-STARR-seq lymphoblastoid silent region 18520 [Gene]
  • LOC129999085:ATAC-STARR-seq lymphoblastoid silent region 18521 [Gene]
  • LOC126860130:BRD4-independent group 4 enhancer GRCh37_chr7:103130126-103131325 [Gene]
  • LOC126860133:BRD4-independent group 4 enhancer GRCh37_chr7:103916337-103917536 [Gene]
  • LOC126860135:BRD4-independent group 4 enhancer GRCh37_chr7:104190573-104191772 [Gene]
  • LOC123956195:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:101630224-101631423 [Gene]
  • LOC126860127:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:101841732-101842931 [Gene]
  • LOC116183096:CRISPRi-validated cis-regulatory element chr7.3907 [Gene]
  • DNAJC2:DnaJ heat shock protein family (Hsp40) member C2 [Gene - OMIM - HGNC]
  • FBXL13:F-box and leucine rich repeat protein 13 [Gene - OMIM - HGNC]
  • KMT2E-AS1:KMT2E antisense RNA 1 [Gene - HGNC]
  • LHFPL3:LHFPL tetraspan subfamily member 3 [Gene - OMIM - HGNC]
  • LHFPL3-AS1:LHFPL3 antisense RNA 1 [Gene - HGNC]
  • LHFPL3-AS2:LHFPL3 antisense RNA 2 [Gene - HGNC]
  • LOC100630923:LOC100289561-PRKRIP1 readthrough [Gene]
  • LOC111776221:MED14-independent group 3 enhancer GRCh37_chr7:101595769-101596968 [Gene]
  • LOC126860129:MED14-independent group 3 enhancer GRCh37_chr7:102613398-102614597 [Gene]
  • LOC126860131:MED14-independent group 3 enhancer GRCh37_chr7:103301048-103302247 [Gene]
  • LOC126860134:MED14-independent group 3 enhancer GRCh37_chr7:104169841-104171040 [Gene]
  • LOC129389832:MPRA-validated peak6667 silencer [Gene]
  • NAPEPLD:N-acyl phosphatidylethanolamine phospholipase D [Gene - OMIM - HGNC]
  • ORAI2:ORAI calcium release-activated calcium modulator 2 [Gene - OMIM - HGNC]
  • LOC126860126:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:101740358-101741557 [Gene]
  • LOC126860128:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:102516003-102517202 [Gene]
  • LOC113687181:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:102631963-102633162 [Gene]
  • LOC126860132:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:103904410-103905609 [Gene]
  • POLR2J2-UPK3BL1:POLR2J2-UPK3BL1 readthrough [Gene]
  • POLR2J3-UPK3BL2:POLR2J3-UPK3BL2 readthrough [Gene]
  • PRKRIP1:PRKR interacting protein 1 [Gene - OMIM - HGNC]
  • RASA4:RAS p21 protein activator 4 [Gene - OMIM - HGNC]
  • RASA4B:RAS p21 protein activator 4B [Gene - HGNC]
  • POLR2J2:RNA polymerase II subunit J2 [Gene - OMIM - HGNC]
  • POLR2J3:RNA polymerase II subunit J3 [Gene - HGNC]
  • POLR2J:RNA polymerase II subunit J [Gene - OMIM - HGNC]
  • SH2B2:SH2B adaptor protein 2 [Gene - OMIM - HGNC]
  • SLC26A5-AS1:SLC26A5 antisense RNA 1 [Gene - HGNC]
  • SRPK2:SRSF protein kinase 2 [Gene - OMIM - HGNC]
  • LOC123956199:Sharpr-MPRA regulatory region 10264 [Gene]
  • LOC121175357:Sharpr-MPRA regulatory region 11588 [Gene]
  • LOC123956201:Sharpr-MPRA regulatory region 1232 [Gene]
  • LOC123956200:Sharpr-MPRA regulatory region 15155 [Gene]
  • LOC123956196:Sharpr-MPRA regulatory region 1808 [Gene]
  • LOC113687180:Sharpr-MPRA regulatory region 2028 [Gene]
  • LOC121175356:Sharpr-MPRA regulatory region 3063 [Gene]
  • LOC121740693:Sharpr-MPRA regulatory region 3260 [Gene]
  • LOC123956194:Sharpr-MPRA regulatory region 4286 [Gene]
  • LOC123956193:Sharpr-MPRA regulatory region 716 [Gene]
  • LOC123956198:Sharpr-MPRA regulatory region 7515 [Gene]
  • LOC123956192:Sharpr-MPRA regulatory region 7535 [Gene]
  • LOC113687182:Sharpr-MPRA regulatory region 8680 [Gene]
  • LOC123956197:Sharpr-MPRA regulatory region 9959 [Gene]
  • ALKBH4:alkB homolog 4, lysine demethylase [Gene - OMIM - HGNC]
  • ARMC10:armadillo repeat containing 10 [Gene - OMIM - HGNC]
  • COL26A1:collagen type XXVI alpha 1 chain [Gene - OMIM - HGNC]
  • CUX1:cut like homeobox 1 [Gene - OMIM - HGNC]
  • FAM185A:family with sequence similarity 185 member A [Gene - HGNC]
  • LRRC17:leucine rich repeat containing 17 [Gene - OMIM - HGNC]
  • LRWD1:leucine rich repeats and WD repeat domain containing 1 [Gene - OMIM - HGNC]
  • LINC01004:long intergenic non-protein coding RNA 1004 [Gene - HGNC]
  • LINC01007:long intergenic non-protein coding RNA 1007 [Gene - HGNC]
  • KMT2E:lysine methyltransferase 2E (inactive) [Gene - OMIM - HGNC]
  • MIR4285:microRNA 4285 [Gene - HGNC]
  • MIR4467:microRNA 4467 [Gene - HGNC]
  • MIR5090:microRNA 5090 [Gene - HGNC]
  • MIR548O:microRNA 548o [Gene - HGNC]
  • MYL10:myosin light chain 10 [Gene - OMIM - HGNC]
  • NFE4:nuclear factor, erythroid 4 [Gene - OMIM - HGNC]
  • ORC5:origin recognition complex subunit 5 [Gene - OMIM - HGNC]
  • PMPCB:peptidase, mitochondrial processing subunit beta [Gene - OMIM - HGNC]
  • PSMC2:proteasome 26S subunit, ATPase 2 [Gene - OMIM - HGNC]
  • RELN:reelin [Gene - OMIM - HGNC]
  • SLC26A5:solute carrier family 26 member 5 [Gene - OMIM - HGNC]
  • SPDYE2:speedy/RINGO cell cycle regulator family member E2 [Gene - OMIM - HGNC]
  • SPDYE2B:speedy/RINGO cell cycle regulator family member E2B [Gene - HGNC]
  • SPDYE6:speedy/RINGO cell cycle regulator family member E6 [Gene - HGNC]
  • LOC101927902:uncharacterized LOC101927902 [Gene]
  • UPK3BL1:uroplakin 3B like 1 [Gene - HGNC]
  • UPK3BL2:uroplakin 3B like 2 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7q22.1-22.3
Genomic location:
Preferred name:
GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3
HGVS:
  • NC_000007.14:g.(?_101525795)_(105432462_?)dup
  • NC_000007.12:g.(?_100955796)_(104860145_?)dup
  • NC_000007.13:g.(?_101169076)_(105072909_?)dup
Links:
dbVar: nssv579052; dbVar: nsv529322
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
SCV000078037ISCA site 4

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 4, SCV000078037.4

#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