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GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 14, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000136863.5

Allele description [Variation Report for GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3]

GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3

Genes:
  • LOC108254695:9q34.3 CACNA1B recombination region [Gene]
  • LOC108281115:9q34.3 EHMT1 distal recombination region [Gene]
  • LOC108281113:9q34.3 PNPLA7 recombination region [Gene]
  • ARRDC1-AS1:ARRDC1 antisense RNA 1 [Gene - HGNC]
  • 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]
  • 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]
  • NOXA1:NADPH oxidase activator 1 [Gene - OMIM - HGNC]
  • NSMF:NMDA receptor synaptonuclear signaling and neuronal migration factor [Gene - OMIM - HGNC]
  • LOC124375253:Sharpr-MPRA regulatory region 12030 [Gene]
  • LOC113839542:Sharpr-MPRA regulatory region 4489 [Gene]
  • LOC124375252:Sharpr-MPRA regulatory region 4638 [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]
  • 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]
  • PNPLA7:patatin like phospholipase domain containing 7 [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 gain
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3
HGVS:
  • NC_000009.12:g.(?_137391682)_(138114463_?)dup
  • NC_000009.10:g.(?_139405955)_(140128736_?)dup
  • NC_000009.11:g.(?_140286134)_(141008915_?)dup
Links:
dbVar: nssv582204; dbVar: nsv534215
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
SCV000176993ISCA site 8

See additional submitters

no assertion criteria provided
Pathogenic
(Oct 14, 2010) 		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

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 8, SCV000176993.3

#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