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GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 30, 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:
RCV000133938.6

Allele description [Variation Report for GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1]

GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1

Genes:
  • LOC129932112:ATAC-STARR-seq lymphoblastoid active region 2240 [Gene]
  • LOC129932118:ATAC-STARR-seq lymphoblastoid active region 2242 [Gene]
  • LOC129932119:ATAC-STARR-seq lymphoblastoid active region 2243 [Gene]
  • LOC129932120:ATAC-STARR-seq lymphoblastoid active region 2244 [Gene]
  • LOC129932121:ATAC-STARR-seq lymphoblastoid active region 2245 [Gene]
  • LOC129932123:ATAC-STARR-seq lymphoblastoid active region 2246 [Gene]
  • LOC129932124:ATAC-STARR-seq lymphoblastoid active region 2247 [Gene]
  • LOC129932125:ATAC-STARR-seq lymphoblastoid active region 2248 [Gene]
  • LOC129932113:ATAC-STARR-seq lymphoblastoid silent region 1641 [Gene]
  • LOC129932114:ATAC-STARR-seq lymphoblastoid silent region 1642 [Gene]
  • LOC129932115:ATAC-STARR-seq lymphoblastoid silent region 1643 [Gene]
  • LOC129932116:ATAC-STARR-seq lymphoblastoid silent region 1645 [Gene]
  • LOC129932117:ATAC-STARR-seq lymphoblastoid silent region 1647 [Gene]
  • LOC129932122:ATAC-STARR-seq lymphoblastoid silent region 1648 [Gene]
  • LOC126805951:BRD4-independent group 4 enhancer GRCh37_chr1:185034115-185035314 [Gene]
  • LOC126805955:BRD4-independent group 4 enhancer GRCh37_chr1:186323778-186324977 [Gene]
  • LOC126805950:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:184985922-184987121 [Gene]
  • LOC126805952:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:185554623-185555822 [Gene]
  • LOC126805954:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:186312648-186313847 [Gene]
  • LOC129388660:MPRA-validated peak505 silencer [Gene]
  • LOC129388661:MPRA-validated peak509 silencer [Gene]
  • LOC129388662:MPRA-validated peak510 silencer [Gene]
  • LOC129388663:MPRA-validated peak511 silencer [Gene]
  • LOC129388664:MPRA-validated peak512 silencer [Gene]
  • LOC129388665:MPRA-validated peak513 silencer [Gene]
  • LOC129388666:MPRA-validated peak514 silencer [Gene]
  • LOC129388667:MPRA-validated peak515 silencer [Gene]
  • LOC126805953:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:186156636-186157835 [Gene]
  • PDC-AS1:PDC antisense RNA 1 [Gene - HGNC]
  • SWT1:SWT1 RNA endoribonuclease homolog [Gene - OMIM - HGNC]
  • LOC113939981:Sharpr-MPRA regulatory region 5860 [Gene]
  • LOC122149329:Sharpr-MPRA regulatory region 834 [Gene]
  • LOC122149328:Sharpr-MPRA regulatory region 9576 [Gene]
  • HMCN1:hemicentin 1 [Gene - OMIM - HGNC]
  • IVNS1ABP:influenza virus NS1A binding protein [Gene - OMIM - HGNC]
  • LINC01350:long intergenic non-protein coding RNA 1350 [Gene - HGNC]
  • LINC01633:long intergenic non-protein coding RNA 1633 [Gene - HGNC]
  • NIBAN1:niban apoptosis regulator 1 [Gene - OMIM - HGNC]
  • OCLM:oculomedin [Gene - OMIM - HGNC]
  • ODR4:odr-4 GPCR localization factor homolog [Gene - OMIM - HGNC]
  • PDC:phosducin [Gene - OMIM - HGNC]
  • PRG4:proteoglycan 4 [Gene - OMIM - HGNC]
  • RNF2:ring finger protein 2 [Gene - OMIM - HGNC]
  • TRMT1L:tRNA methyltransferase 1 like [Gene - OMIM - HGNC]
  • TPR:translocated promoter region, nuclear basket protein [Gene - OMIM - HGNC]
  • GS1-204I12.4:uncharacterized GS1-204I12.4 [Gene]
Variant type:
copy number loss
Cytogenetic location:
1q25.3-31.1
Genomic location:
Preferred name:
GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1
HGVS:
  • NC_000001.11:g.(?_184888428)_(186622330_?)del
  • NC_000001.10:g.(?_184857562)_(186591462_?)del
  • NC_000001.9:g.(?_183124185)_(184858085_?)del
Links:
dbVar: nssv575864; dbVar: nsv492009
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
SCV000173356ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(Mar 30, 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 4, SCV000173356.3

#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