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GRCh38/hg38 1p31.1(chr1:77777821-79122486)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 28, 2013
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:
RCV000140751.5

Allele description [Variation Report for GRCh38/hg38 1p31.1(chr1:77777821-79122486)x1]

GRCh38/hg38 1p31.1(chr1:77777821-79122486)x1

Genes:
  • LOC129930794:ATAC-STARR-seq lymphoblastoid active region 1221 [Gene]
  • LOC129930795:ATAC-STARR-seq lymphoblastoid active region 1222 [Gene]
  • LOC129930798:ATAC-STARR-seq lymphoblastoid active region 1223 [Gene]
  • LOC129930799:ATAC-STARR-seq lymphoblastoid active region 1224 [Gene]
  • LOC129930800:ATAC-STARR-seq lymphoblastoid active region 1225 [Gene]
  • LOC129930801:ATAC-STARR-seq lymphoblastoid active region 1226 [Gene]
  • LOC129930802:ATAC-STARR-seq lymphoblastoid active region 1227 [Gene]
  • LOC129930803:ATAC-STARR-seq lymphoblastoid active region 1228 [Gene]
  • LOC129930804:ATAC-STARR-seq lymphoblastoid active region 1229 [Gene]
  • LOC129930805:ATAC-STARR-seq lymphoblastoid active region 1230 [Gene]
  • LOC129930806:ATAC-STARR-seq lymphoblastoid active region 1231 [Gene]
  • LOC129930807:ATAC-STARR-seq lymphoblastoid active region 1232 [Gene]
  • LOC129930808:ATAC-STARR-seq lymphoblastoid active region 1233 [Gene]
  • LOC129930809:ATAC-STARR-seq lymphoblastoid active region 1234 [Gene]
  • LOC129930810:ATAC-STARR-seq lymphoblastoid active region 1235 [Gene]
  • LOC129930811:ATAC-STARR-seq lymphoblastoid active region 1236 [Gene]
  • LOC129930812:ATAC-STARR-seq lymphoblastoid active region 1237 [Gene]
  • LOC129930813:ATAC-STARR-seq lymphoblastoid active region 1238 [Gene]
  • LOC129930796:ATAC-STARR-seq lymphoblastoid silent region 1005 [Gene]
  • LOC129930797:ATAC-STARR-seq lymphoblastoid silent region 1006 [Gene]
  • LOC126805765:BRD4-independent group 4 enhancer GRCh37_chr1:78383688-78384887 [Gene]
  • LOC126805767:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:79157716-79158915 [Gene]
  • DNAJB4:DnaJ heat shock protein family (Hsp40) member B4 [Gene - OMIM - HGNC]
  • GIPC2:GIPC PDZ domain containing family member 2 [Gene - OMIM - HGNC]
  • NEXN-AS1:NEXN antisense RNA 1 [Gene - OMIM - HGNC]
  • LOC126805766:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:78805687-78806886 [Gene]
  • LOC110121238:VISTA enhancer hs1989 [Gene]
  • ADGRL4:adhesion G protein-coupled receptor L4 [Gene - OMIM - HGNC]
  • FUBP1:far upstream element binding protein 1 [Gene - OMIM - HGNC]
  • IFI44L:interferon induced protein 44 like [Gene - OMIM - HGNC]
  • IFI44:interferon induced protein 44 [Gene - OMIM - HGNC]
  • MIGA1:mitoguardin 1 [Gene - OMIM - HGNC]
  • NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]
  • PTGFR:prostaglandin F receptor [Gene - OMIM - HGNC]
  • MGC27382:uncharacterized MGC27382 [Gene]
Variant type:
copy number loss
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
GRCh38/hg38 1p31.1(chr1:77777821-79122486)x1
HGVS:
  • NC_000001.11:g.(?_77777821)_(79122486_?)del
  • NC_000001.10:g.(?_78243506)_(79588171_?)del
  • NC_000001.9:g.(?_78016094)_(79360759_?)del
Links:
dbVar: nssv1610204; dbVar: nsv932021
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
SCV000181504ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jan 28, 2013) 		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 1, SCV000181504.4

#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