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GRCh38/hg38 9q34.3(chr9:137215877-138138735)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:
RCV000052941.5

Allele description [Variation Report for GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1]

GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1

Genes:
  • LOC108254695:9q34.3 CACNA1B recombination region [Gene]
  • LOC108281115:9q34.3 EHMT1 distal recombination region [Gene]
  • LOC108281113:9q34.3 PNPLA7 recombination region [Gene]
  • LOC108281114:9q34.3 TOR4A distal recombination region [Gene]
  • ARRDC1-AS1:ARRDC1 antisense RNA 1 [Gene - HGNC]
  • LOC130003102:ATAC-STARR-seq lymphoblastoid active region 29349 [Gene]
  • LOC130003107:ATAC-STARR-seq lymphoblastoid active region 29350 [Gene]
  • LOC130003124:ATAC-STARR-seq lymphoblastoid active region 29352 [Gene]
  • LOC130003127:ATAC-STARR-seq lymphoblastoid active region 29354 [Gene]
  • LOC130003134:ATAC-STARR-seq lymphoblastoid active region 29355 [Gene]
  • LOC130003136:ATAC-STARR-seq lymphoblastoid active region 29356 [Gene]
  • LOC130003137:ATAC-STARR-seq lymphoblastoid active region 29357 [Gene]
  • LOC130003138:ATAC-STARR-seq lymphoblastoid active region 29358 [Gene]
  • LOC130003139:ATAC-STARR-seq lymphoblastoid active region 29359 [Gene]
  • LOC130003141:ATAC-STARR-seq lymphoblastoid active region 29361 [Gene]
  • LOC130003142:ATAC-STARR-seq lymphoblastoid active region 29362 [Gene]
  • LOC130003143:ATAC-STARR-seq lymphoblastoid active region 29363 [Gene]
  • LOC130003144:ATAC-STARR-seq lymphoblastoid active region 29364 [Gene]
  • LOC130003145:ATAC-STARR-seq lymphoblastoid active region 29366 [Gene]
  • LOC130003146:ATAC-STARR-seq lymphoblastoid active region 29367 [Gene]
  • LOC130003147:ATAC-STARR-seq lymphoblastoid active region 29368 [Gene]
  • LOC130003148:ATAC-STARR-seq lymphoblastoid active region 29369 [Gene]
  • LOC130003149:ATAC-STARR-seq lymphoblastoid active region 29370 [Gene]
  • LOC130003150:ATAC-STARR-seq lymphoblastoid active region 29371 [Gene]
  • LOC130003095:ATAC-STARR-seq lymphoblastoid silent region 20592 [Gene]
  • LOC130003096:ATAC-STARR-seq lymphoblastoid silent region 20593 [Gene]
  • LOC130003097:ATAC-STARR-seq lymphoblastoid silent region 20594 [Gene]
  • LOC130003098:ATAC-STARR-seq lymphoblastoid silent region 20596 [Gene]
  • LOC130003099:ATAC-STARR-seq lymphoblastoid silent region 20597 [Gene]
  • LOC130003100:ATAC-STARR-seq lymphoblastoid silent region 20598 [Gene]
  • LOC130003101:ATAC-STARR-seq lymphoblastoid silent region 20599 [Gene]
  • LOC130003103:ATAC-STARR-seq lymphoblastoid silent region 20604 [Gene]
  • LOC130003104:ATAC-STARR-seq lymphoblastoid silent region 20605 [Gene]
  • LOC130003105:ATAC-STARR-seq lymphoblastoid silent region 20606 [Gene]
  • LOC130003106:ATAC-STARR-seq lymphoblastoid silent region 20607 [Gene]
  • LOC130003108:ATAC-STARR-seq lymphoblastoid silent region 20608 [Gene]
  • LOC130003109:ATAC-STARR-seq lymphoblastoid silent region 20609 [Gene]
  • LOC130003110:ATAC-STARR-seq lymphoblastoid silent region 20610 [Gene]
  • LOC130003111:ATAC-STARR-seq lymphoblastoid silent region 20611 [Gene]
  • LOC130003112:ATAC-STARR-seq lymphoblastoid silent region 20613 [Gene]
  • LOC130003113:ATAC-STARR-seq lymphoblastoid silent region 20614 [Gene]
  • LOC130003114:ATAC-STARR-seq lymphoblastoid silent region 20615 [Gene]
  • LOC130003115:ATAC-STARR-seq lymphoblastoid silent region 20616 [Gene]
  • LOC130003116:ATAC-STARR-seq lymphoblastoid silent region 20619 [Gene]
  • LOC130003117:ATAC-STARR-seq lymphoblastoid silent region 20620 [Gene]
  • LOC130003118:ATAC-STARR-seq lymphoblastoid silent region 20621 [Gene]
  • LOC130003119:ATAC-STARR-seq lymphoblastoid silent region 20623 [Gene]
  • LOC130003120:ATAC-STARR-seq lymphoblastoid silent region 20624 [Gene]
  • LOC130003121:ATAC-STARR-seq lymphoblastoid silent region 20625 [Gene]
  • LOC130003122:ATAC-STARR-seq lymphoblastoid silent region 20626 [Gene]
  • LOC130003123:ATAC-STARR-seq lymphoblastoid silent region 20627 [Gene]
  • LOC130003125:ATAC-STARR-seq lymphoblastoid silent region 20628 [Gene]
  • LOC130003126:ATAC-STARR-seq lymphoblastoid silent region 20629 [Gene]
  • LOC130003128:ATAC-STARR-seq lymphoblastoid silent region 20630 [Gene]
  • LOC130003129:ATAC-STARR-seq lymphoblastoid silent region 20631 [Gene]
  • LOC130003130:ATAC-STARR-seq lymphoblastoid silent region 20632 [Gene]
  • LOC130003131:ATAC-STARR-seq lymphoblastoid silent region 20633 [Gene]
  • LOC130003132:ATAC-STARR-seq lymphoblastoid silent region 20634 [Gene]
  • LOC130003133:ATAC-STARR-seq lymphoblastoid silent region 20635 [Gene]
  • LOC130003135:ATAC-STARR-seq lymphoblastoid silent region 20636 [Gene]
  • LOC130003140:ATAC-STARR-seq lymphoblastoid silent region 20637 [Gene]
  • CACNA1B-AS1:CACNA1B antisense RNA 1 [Gene - HGNC]
  • LOC126860799:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:140657628-140658827 [Gene]
  • LOC126860801:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:140884423-140885622 [Gene]
  • LOC126860797:MED14-independent group 3 enhancer GRCh37_chr9:140343721-140344920 [Gene]
  • LOC126860798:MED14-independent group 3 enhancer GRCh37_chr9:140377541-140378740 [Gene]
  • LOC126860800:MED14-independent group 3 enhancer GRCh37_chr9:140767993-140769192 [Gene]
  • LOC129390118:MPRA-validated peak7347 silencer [Gene]
  • NDOR1:NADPH dependent diflavin oxidoreductase 1 [Gene - OMIM - HGNC]
  • NOXA1:NADPH oxidase activator 1 [Gene - OMIM - HGNC]
  • NSMF:NMDA receptor synaptonuclear signaling and neuronal migration factor [Gene - OMIM - HGNC]
  • NRARP:NOTCH regulated ankyrin repeat protein [Gene - OMIM - HGNC]
  • STPG3-AS1:STPG3 antisense RNA 1 [Gene - HGNC]
  • LOC124375253:Sharpr-MPRA regulatory region 12030 [Gene]
  • LOC113839542:Sharpr-MPRA regulatory region 4489 [Gene]
  • LOC124375252:Sharpr-MPRA regulatory region 4638 [Gene]
  • LOC124375251:Sharpr-MPRA regulatory region 5016 [Gene]
  • LOC121366036:Sharpr-MPRA regulatory region 6441 [Gene]
  • LOC124375254:Sharpr-MPRA regulatory region 8502 [Gene]
  • ARRDC1:arrestin domain containing 1 [Gene - OMIM - HGNC]
  • CACNA1B:calcium voltage-gated channel subunit alpha1 B [Gene - OMIM - HGNC]
  • CIMIP2A:ciliary microtubule inner protein 2A [Gene - HGNC]
  • CYSRT1:cysteine rich tail 1 [Gene - HGNC]
  • DPH7:diphthamide biosynthesis 7 [Gene - OMIM - HGNC]
  • ENTPD8:ectonucleoside triphosphate diphosphohydrolase 8 [Gene - OMIM - HGNC]
  • EHMT1:euchromatic histone lysine methyltransferase 1 [Gene - OMIM - HGNC]
  • EXD3:exonuclease 3'-5' domain containing 3 [Gene - HGNC]
  • MIR602:microRNA 602 [Gene - HGNC]
  • MIR7114:microRNA 7114 [Gene - HGNC]
  • MRPL41:mitochondrial ribosomal protein L41 [Gene - OMIM - HGNC]
  • NELFB:negative elongation factor complex member B [Gene - OMIM - HGNC]
  • PNPLA7:patatin like phospholipase domain containing 7 [Gene - OMIM - HGNC]
  • RNF208:ring finger protein 208 [Gene - OMIM - HGNC]
  • RNF224:ring finger protein 224 [Gene - HGNC]
  • LOC122513141:ring finger protein-like [Gene]
  • SLC34A3:solute carrier family 34 member 3 [Gene - OMIM - HGNC]
  • STPG3:sperm-tail PG-rich repeat containing 3 [Gene - HGNC]
  • TOR4A:torsin family 4 member A [Gene - HGNC]
  • TUBB4B:tubulin beta 4B class IVb [Gene - OMIM - HGNC]
  • LOC100133077:uncharacterized LOC100133077 [Gene]
  • LOC101928786:uncharacterized LOC101928786 [Gene]
  • LOC651337:uncharacterized LOC651337 [Gene]
  • ZMYND19:zinc finger MYND-type containing 19 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1
HGVS:
  • NC_000009.12:g.(?_137215877)_(138138735_?)del
  • NC_000009.10:g.(?_139230150)_(140153008_?)del
  • NC_000009.11:g.(?_140110329)_(141033187_?)del
Links:
dbVar: nssv578357; dbVar: nsv531654
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
SCV000080295GeneDx
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, SCV000080295.5

#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