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GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)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:
RCV000054157.7

Allele description [Variation Report for GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1]

GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1

Genes:
  • 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]
  • LOC129999086:ATAC-STARR-seq lymphoblastoid active region 26462 [Gene]
  • LOC129999087:ATAC-STARR-seq lymphoblastoid active region 26463 [Gene]
  • LOC129999088:ATAC-STARR-seq lymphoblastoid active region 26466 [Gene]
  • LOC129999089:ATAC-STARR-seq lymphoblastoid active region 26467 [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]
  • LOC116183096:CRISPRi-validated cis-regulatory element chr7.3907 [Gene]
  • DNAJC2:DnaJ heat shock protein family (Hsp40) member C2 [Gene - OMIM - HGNC]
  • EFCAB10:EF-hand calcium binding domain 10 [Gene - HGNC]
  • EFCAB10-AS1:EFCAB10 antisense RNA 1 [Gene - 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]
  • 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]
  • LOC126860136:MED14-independent group 3 enhancer GRCh37_chr7:105288629-105289828 [Gene]
  • LOC129389832:MPRA-validated peak6667 silencer [Gene]
  • NAPEPLD:N-acyl phosphatidylethanolamine phospholipase D [Gene - OMIM - HGNC]
  • 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]
  • RINT1:RAD50 interactor 1 [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]
  • LOC113687183:Sharpr-MPRA regulatory region 12225 [Gene]
  • LOC123956201:Sharpr-MPRA regulatory region 1232 [Gene]
  • LOC123956202:Sharpr-MPRA regulatory region 14983 [Gene]
  • LOC123956200:Sharpr-MPRA regulatory region 15155 [Gene]
  • LOC121175358:Sharpr-MPRA regulatory region 5075 [Gene]
  • LOC123956203:Sharpr-MPRA regulatory region 7350 [Gene]
  • LOC123956198:Sharpr-MPRA regulatory region 7515 [Gene]
  • LOC113687182:Sharpr-MPRA regulatory region 8680 [Gene]
  • LOC123956204:Sharpr-MPRA regulatory region 8747 [Gene]
  • ARMC10:armadillo repeat containing 10 [Gene - OMIM - HGNC]
  • ATXN7L1:ataxin 7 like 1 [Gene - HGNC]
  • FAM185A:family with sequence similarity 185 member A [Gene - HGNC]
  • LRRC17:leucine rich repeat containing 17 [Gene - OMIM - HGNC]
  • LINC01004:long intergenic non-protein coding RNA 1004 [Gene - HGNC]
  • KMT2E:lysine methyltransferase 2E (inactive) [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]
  • PUS7:pseudouridine synthase 7 [Gene - OMIM - HGNC]
  • RELN:reelin [Gene - OMIM - HGNC]
  • SLC26A5:solute carrier family 26 member 5 [Gene - OMIM - HGNC]
  • LOC101927902:uncharacterized LOC101927902 [Gene]
Variant type:
copy number loss
Cytogenetic location:
7q22.1-22.3
Genomic location:
Preferred name:
GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1
HGVS:
  • NC_000007.14:g.(?_102808199)_(105701108_?)del
  • NC_000007.12:g.(?_102235882)_(105128791_?)del
  • NC_000007.13:g.(?_102448646)_(105341555_?)del
Links:
dbVar: nssv578207; dbVar: nsv532827
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
SCV000081521GeneDx
criteria provided, single submitter

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

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 GeneDx, SCV000081521.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023