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GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 13, 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:
RCV000142521.5

Allele description [Variation Report for GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1]

GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1

Genes:
  • ARF5:ADP ribosylation factor 5 [Gene - OMIM - HGNC]
  • ASB15-AS1:ASB15 antisense RNA 1 [Gene - HGNC]
  • LOC129999211:ATAC-STARR-seq lymphoblastoid active region 26563 [Gene]
  • LOC129999212:ATAC-STARR-seq lymphoblastoid active region 26564 [Gene]
  • LOC129999213:ATAC-STARR-seq lymphoblastoid active region 26565 [Gene]
  • LOC129999219:ATAC-STARR-seq lymphoblastoid active region 26566 [Gene]
  • LOC129999224:ATAC-STARR-seq lymphoblastoid active region 26567 [Gene]
  • LOC129999225:ATAC-STARR-seq lymphoblastoid active region 26570 [Gene]
  • LOC129999227:ATAC-STARR-seq lymphoblastoid active region 26571 [Gene]
  • LOC129999228:ATAC-STARR-seq lymphoblastoid active region 26572 [Gene]
  • LOC129999230:ATAC-STARR-seq lymphoblastoid active region 26574 [Gene]
  • LOC129999231:ATAC-STARR-seq lymphoblastoid active region 26575 [Gene]
  • LOC129999232:ATAC-STARR-seq lymphoblastoid active region 26576 [Gene]
  • LOC129999233:ATAC-STARR-seq lymphoblastoid active region 26577 [Gene]
  • LOC129999234:ATAC-STARR-seq lymphoblastoid active region 26578 [Gene]
  • LOC129999235:ATAC-STARR-seq lymphoblastoid active region 26580 [Gene]
  • LOC129999236:ATAC-STARR-seq lymphoblastoid active region 26581 [Gene]
  • LOC129999237:ATAC-STARR-seq lymphoblastoid active region 26582 [Gene]
  • LOC129999241:ATAC-STARR-seq lymphoblastoid active region 26584 [Gene]
  • LOC129999242:ATAC-STARR-seq lymphoblastoid active region 26585 [Gene]
  • LOC129999243:ATAC-STARR-seq lymphoblastoid active region 26588 [Gene]
  • LOC129999244:ATAC-STARR-seq lymphoblastoid active region 26589 [Gene]
  • LOC129999246:ATAC-STARR-seq lymphoblastoid active region 26590 [Gene]
  • LOC129999247:ATAC-STARR-seq lymphoblastoid active region 26592 [Gene]
  • LOC129999248:ATAC-STARR-seq lymphoblastoid active region 26593 [Gene]
  • LOC129999253:ATAC-STARR-seq lymphoblastoid active region 26594 [Gene]
  • LOC129999254:ATAC-STARR-seq lymphoblastoid active region 26595 [Gene]
  • LOC129999255:ATAC-STARR-seq lymphoblastoid active region 26596 [Gene]
  • LOC129999256:ATAC-STARR-seq lymphoblastoid active region 26597 [Gene]
  • LOC129999259:ATAC-STARR-seq lymphoblastoid active region 26598 [Gene]
  • LOC129999261:ATAC-STARR-seq lymphoblastoid active region 26599 [Gene]
  • LOC129999263:ATAC-STARR-seq lymphoblastoid active region 26600 [Gene]
  • LOC129999264:ATAC-STARR-seq lymphoblastoid active region 26601 [Gene]
  • LOC129999265:ATAC-STARR-seq lymphoblastoid active region 26602 [Gene]
  • LOC129999271:ATAC-STARR-seq lymphoblastoid active region 26603 [Gene]
  • LOC129999274:ATAC-STARR-seq lymphoblastoid active region 26604 [Gene]
  • LOC129999275:ATAC-STARR-seq lymphoblastoid active region 26605 [Gene]
  • LOC129999279:ATAC-STARR-seq lymphoblastoid active region 26607 [Gene]
  • LOC129999210:ATAC-STARR-seq lymphoblastoid silent region 18577 [Gene]
  • LOC129999214:ATAC-STARR-seq lymphoblastoid silent region 18578 [Gene]
  • LOC129999215:ATAC-STARR-seq lymphoblastoid silent region 18579 [Gene]
  • LOC129999216:ATAC-STARR-seq lymphoblastoid silent region 18580 [Gene]
  • LOC129999217:ATAC-STARR-seq lymphoblastoid silent region 18581 [Gene]
  • LOC129999218:ATAC-STARR-seq lymphoblastoid silent region 18582 [Gene]
  • LOC129999220:ATAC-STARR-seq lymphoblastoid silent region 18583 [Gene]
  • LOC129999221:ATAC-STARR-seq lymphoblastoid silent region 18584 [Gene]
  • LOC129999222:ATAC-STARR-seq lymphoblastoid silent region 18585 [Gene]
  • LOC129999223:ATAC-STARR-seq lymphoblastoid silent region 18586 [Gene]
  • LOC129999226:ATAC-STARR-seq lymphoblastoid silent region 18587 [Gene]
  • LOC129999229:ATAC-STARR-seq lymphoblastoid silent region 18589 [Gene]
  • LOC129999238:ATAC-STARR-seq lymphoblastoid silent region 18590 [Gene]
  • LOC129999239:ATAC-STARR-seq lymphoblastoid silent region 18591 [Gene]
  • LOC129999240:ATAC-STARR-seq lymphoblastoid silent region 18593 [Gene]
  • LOC129999245:ATAC-STARR-seq lymphoblastoid silent region 18596 [Gene]
  • LOC129999249:ATAC-STARR-seq lymphoblastoid silent region 18597 [Gene]
  • LOC129999250:ATAC-STARR-seq lymphoblastoid silent region 18598 [Gene]
  • LOC129999251:ATAC-STARR-seq lymphoblastoid silent region 18599 [Gene]
  • LOC129999252:ATAC-STARR-seq lymphoblastoid silent region 18600 [Gene]
  • LOC129999257:ATAC-STARR-seq lymphoblastoid silent region 18605 [Gene]
  • LOC129999258:ATAC-STARR-seq lymphoblastoid silent region 18606 [Gene]
  • LOC129999260:ATAC-STARR-seq lymphoblastoid silent region 18607 [Gene]
  • LOC129999262:ATAC-STARR-seq lymphoblastoid silent region 18608 [Gene]
  • LOC129999266:ATAC-STARR-seq lymphoblastoid silent region 18609 [Gene]
  • LOC129999267:ATAC-STARR-seq lymphoblastoid silent region 18610 [Gene]
  • LOC129999268:ATAC-STARR-seq lymphoblastoid silent region 18611 [Gene]
  • LOC129999269:ATAC-STARR-seq lymphoblastoid silent region 18612 [Gene]
  • LOC129999270:ATAC-STARR-seq lymphoblastoid silent region 18613 [Gene]
  • LOC129999272:ATAC-STARR-seq lymphoblastoid silent region 18614 [Gene]
  • LOC129999273:ATAC-STARR-seq lymphoblastoid silent region 18616 [Gene]
  • LOC129999276:ATAC-STARR-seq lymphoblastoid silent region 18617 [Gene]
  • LOC129999277:ATAC-STARR-seq lymphoblastoid silent region 18618 [Gene]
  • LOC129999278:ATAC-STARR-seq lymphoblastoid silent region 18619 [Gene]
  • ATP6V1F:ATPase H+ transporting V1 subunit F [Gene - OMIM - HGNC]
  • LOC126860167:BRD4-independent group 4 enhancer GRCh37_chr7:123197145-123198344 [Gene]
  • LOC126860171:BRD4-independent group 4 enhancer GRCh37_chr7:127223080-127224279 [Gene]
  • LOC126860168:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:123534015-123535214 [Gene]
  • LOC126860173:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:128532717-128533916 [Gene]
  • FEZF1:FEZ family zinc finger 1 [Gene - OMIM - HGNC]
  • FEZF1-AS1:FEZF1 antisense RNA 1 [Gene - HGNC]
  • FLNC-AS1:FLNC antisense RNA 1 [Gene - HGNC]
  • GPR37:G protein-coupled receptor 37 [Gene - OMIM - HGNC]
  • GCC1:GRIP and coiled-coil domain containing 1 [Gene - OMIM - HGNC]
  • GRM8-AS1:GRM8 antisense RNA 1 [Gene - HGNC]
  • HILPDA-AS1:HILPDA antisense RNA 1 [Gene - HGNC]
  • IQUB:IQ motif and ubiquitin domain containing [Gene - HGNC]
  • LOC106728418:LEP 5' regulatory region [Gene]
  • LOC126860172:MED14-independent group 3 enhancer GRCh37_chr7:128341516-128342715 [Gene]
  • LOC129389851:MPRA-validated peak6707 silencer [Gene]
  • LOC129389852:MPRA-validated peak6708 silencer [Gene]
  • LOC129389853:MPRA-validated peak6710 silencer [Gene]
  • LOC129389854:MPRA-validated peak6711 silencer [Gene]
  • LOC129389855:MPRA-validated peak6714 silencer [Gene]
  • LOC129389856:MPRA-validated peak6715 silencer [Gene]
  • LOC129389857:MPRA-validated peak6716 silencer [Gene]
  • NDUFA5:NADH:ubiquinone oxidoreductase subunit A5 [Gene - OMIM - HGNC]
  • LOC126860169:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:126214200-126215399 [Gene]
  • LOC126860170:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:126340799-126341998 [Gene]
  • LOC108251801:PAX4 5' regulatory region [Gene]
  • POT1-AS1:POT1 antisense RNA 1 [Gene - HGNC]
  • RBM28:RNA binding motif protein 28 [Gene - OMIM - HGNC]
  • SND1-DT:SND1 divergent transcript [Gene - HGNC]
  • SND1-IT1:SND1 intronic transcript 1 [Gene - HGNC]
  • SSU72L6:SSU72 like 6 [Gene - HGNC]
  • LOC123956218:Sharpr-MPRA regulatory region 10744 [Gene]
  • LOC123956219:Sharpr-MPRA regulatory region 1680 [Gene]
  • LOC121740697:Sharpr-MPRA regulatory region 1923 [Gene]
  • LOC121175363:Sharpr-MPRA regulatory region 322 [Gene]
  • LOC123956217:Sharpr-MPRA regulatory region 5263 [Gene]
  • LOC113687193:Sharpr-MPRA regulatory region 5954 [Gene]
  • LOC121740696:Sharpr-MPRA regulatory region 8884 [Gene]
  • LOC121175364:Sharpr-MPRA regulatory region 9446 [Gene]
  • LOC110121049:VISTA enhancer hs1308 [Gene]
  • LOC110121210:VISTA enhancer hs1809 [Gene]
  • WASL-DT:WASL divergent transcript [Gene - HGNC]
  • WASL:WASP like actin nucleation promoting factor [Gene - OMIM - HGNC]
  • AASS:aminoadipate-semialdehyde synthase [Gene - OMIM - HGNC]
  • ASB15:ankyrin repeat and SOCS box containing 15 [Gene - OMIM - HGNC]
  • LOC107980434:blue cone (S) opsin upstream regulatory region [Gene]
  • CADPS2:calcium dependent secretion activator 2 [Gene - OMIM - HGNC]
  • CALU:calumenin [Gene - OMIM - HGNC]
  • CCDC136:coiled-coil domain containing 136 [Gene - OMIM - HGNC]
  • FSCN3:fascin actin-bundling protein 3 [Gene - OMIM - HGNC]
  • FLNC:filamin C [Gene - OMIM - HGNC]
  • GRM8:glutamate metabotropic receptor 8 [Gene - OMIM - HGNC]
  • GARIN1A:golgi associated RAB2 interactor 1A [Gene - OMIM - HGNC]
  • GARIN1B:golgi associated RAB2 interactor 1B [Gene - OMIM - HGNC]
  • HYAL4:hyaluronidase 4 [Gene - OMIM - HGNC]
  • HILPDA:hypoxia inducible lipid droplet associated [Gene - OMIM - HGNC]
  • IMPDH1:inosine monophosphate dehydrogenase 1 [Gene - OMIM - HGNC]
  • KCP:kielin cysteine rich BMP regulator [Gene - OMIM - HGNC]
  • LMOD2:leiomodin 2 [Gene - OMIM - HGNC]
  • LEP:leptin [Gene - OMIM - HGNC]
  • LRRC4:leucine rich repeat containing 4 [Gene - OMIM - HGNC]
  • LINC01000:long intergenic non-protein coding RNA 1000 [Gene - HGNC]
  • LINC02830:long intergenic non-protein coding RNA 2830 [Gene - HGNC]
  • LINC03012:long intergenic non-protein coding RNA 3012 [Gene - HGNC]
  • LINC03043:long intergenic non-protein coding RNA 3043 [Gene - HGNC]
  • LOC128772312:melanoma risk locus-associated MPRA allelic enhancer 7:124397814 [Gene]
  • LOC128772313:melanoma risk locus-associated MPRA allelic enhancer 7:124449868 [Gene]
  • LOC128772314:melanoma risk locus-associated MPRA allelic enhancer 7:124542275 [Gene]
  • METTL2B:methyltransferase 2B, tRNA N3-cytidine [Gene - OMIM - HGNC]
  • MIR129-1:microRNA 129-1 [Gene - HGNC]
  • MIR592:microRNA 592 [Gene - HGNC]
  • MIR593:microRNA 593 [Gene - HGNC]
  • OPN1SW:opsin 1, short wave sensitive [Gene - OMIM - HGNC]
  • PAX4:paired box 4 [Gene - OMIM - HGNC]
  • PRRT4:proline rich transmembrane protein 4 [Gene - HGNC]
  • POT1:protection of telomeres 1 [Gene - OMIM - HGNC]
  • PTPRZ1:protein tyrosine phosphatase receptor type Z1 [Gene - OMIM - HGNC]
  • RNF133:ring finger protein 133 [Gene - HGNC]
  • RNF148:ring finger protein 148 [Gene - HGNC]
  • SLC13A1:solute carrier family 13 member 1 [Gene - OMIM - HGNC]
  • SPAM1:sperm adhesion molecule 1 [Gene - OMIM - HGNC]
  • SPMIP1:sperm microtubule inner protein 1 [Gene - HGNC]
  • SND1:staphylococcal nuclease and tudor domain containing 1 [Gene - OMIM - HGNC]
  • TRP-AGG2-3:tRNA-Pro (anticodon AGG) 2-3 [Gene - HGNC]
  • TAS2R16:taste 2 receptor member 16 [Gene - OMIM - HGNC]
  • TMEM229A:transmembrane protein 229A [Gene - HGNC]
  • LOC101928211:uncharacterized LOC101928211 [Gene]
  • LOC101928254:uncharacterized LOC101928254 [Gene]
  • LOC101928283:uncharacterized LOC101928283 [Gene]
  • LOC105375483:uncharacterized LOC105375483 [Gene]
  • LOC105375484:uncharacterized LOC105375484 [Gene]
  • LOC107986845:uncharacterized LOC107986845 [Gene]
  • ZNF800:zinc finger protein 800 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7q31.32-32.1
Genomic location:
Preferred name:
GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1
HGVS:
  • NC_000007.14:g.(?_122018122)_(128907727_?)del
  • NC_000007.12:g.(?_121445412)_(128335016_?)del
  • NC_000007.13:g.(?_121658176)_(128547780_?)del
Links:
dbVar: nssv584398; dbVar: nsv498019
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
SCV000174536ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 13, 2010) 		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

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 1, SCV000174536.4

#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