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GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 5, 2011
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:
RCV000137416.6

Allele description [Variation Report for GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1]

GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1

Genes:
  • ARF5:ADP ribosylation factor 5 [Gene - OMIM - HGNC]
  • 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]
  • 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]
  • LOC126860171:BRD4-independent group 4 enhancer GRCh37_chr7:127223080-127224279 [Gene]
  • LOC126860168:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:123534015-123535214 [Gene]
  • 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]
  • LOC129389851:MPRA-validated peak6707 silencer [Gene]
  • LOC129389852:MPRA-validated peak6708 silencer [Gene]
  • LOC129389853:MPRA-validated peak6710 silencer [Gene]
  • LOC129389854:MPRA-validated peak6711 silencer [Gene]
  • 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]
  • SND1-DT:SND1 divergent transcript [Gene - HGNC]
  • SSU72L6:SSU72 like 6 [Gene - HGNC]
  • LOC123956218:Sharpr-MPRA regulatory region 10744 [Gene]
  • LOC121740697:Sharpr-MPRA regulatory region 1923 [Gene]
  • LOC123956217:Sharpr-MPRA regulatory region 5263 [Gene]
  • LOC113687193:Sharpr-MPRA regulatory region 5954 [Gene]
  • LOC110121049:VISTA enhancer hs1308 [Gene]
  • FSCN3:fascin actin-bundling protein 3 [Gene - OMIM - HGNC]
  • GRM8:glutamate metabotropic receptor 8 [Gene - OMIM - HGNC]
  • HYAL4:hyaluronidase 4 [Gene - OMIM - 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]
  • MIR592:microRNA 592 [Gene - HGNC]
  • PAX4:paired box 4 [Gene - OMIM - HGNC]
  • POT1:protection of telomeres 1 [Gene - OMIM - HGNC]
  • SPAM1:sperm adhesion molecule 1 [Gene - OMIM - HGNC]
  • SND1:staphylococcal nuclease and tudor domain containing 1 [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]
  • 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(chr7:123829366-127947731)x1
HGVS:
  • NC_000007.14:g.(?_123829366)_(127947731_?)del
  • NC_000007.12:g.(?_123256656)_(127375020_?)del
  • NC_000007.13:g.(?_123469420)_(127587784_?)del
Links:
dbVar: nssv1415253; dbVar: nsv817342
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
SCV000177636ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Jul 5, 2011) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000177636.4

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

Last Updated: May 7, 2024