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GRCh38/hg38 1p35.3-35.2(chr1:29015141-30983083)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 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:
RCV000134933.7

Allele description [Variation Report for GRCh38/hg38 1p35.3-35.2(chr1:29015141-30983083)x3]

GRCh38/hg38 1p35.3-35.2(chr1:29015141-30983083)x3

Genes:
  • LOC129929954:ATAC-STARR-seq lymphoblastoid active region 610 [Gene]
  • LOC129929956:ATAC-STARR-seq lymphoblastoid active region 612 [Gene]
  • LOC129929957:ATAC-STARR-seq lymphoblastoid active region 614 [Gene]
  • LOC129929960:ATAC-STARR-seq lymphoblastoid active region 615 [Gene]
  • LOC129929961:ATAC-STARR-seq lymphoblastoid active region 616 [Gene]
  • LOC129929962:ATAC-STARR-seq lymphoblastoid active region 617 [Gene]
  • LOC129929963:ATAC-STARR-seq lymphoblastoid active region 618 [Gene]
  • LOC129929964:ATAC-STARR-seq lymphoblastoid active region 619 [Gene]
  • LOC129929965:ATAC-STARR-seq lymphoblastoid active region 620 [Gene]
  • LOC129929966:ATAC-STARR-seq lymphoblastoid active region 621 [Gene]
  • LOC129929967:ATAC-STARR-seq lymphoblastoid active region 622 [Gene]
  • LOC129929968:ATAC-STARR-seq lymphoblastoid active region 623 [Gene]
  • LOC129929969:ATAC-STARR-seq lymphoblastoid active region 624 [Gene]
  • LOC129929970:ATAC-STARR-seq lymphoblastoid active region 625 [Gene]
  • LOC129929971:ATAC-STARR-seq lymphoblastoid active region 628 [Gene]
  • LOC129929972:ATAC-STARR-seq lymphoblastoid active region 629 [Gene]
  • LOC129929973:ATAC-STARR-seq lymphoblastoid active region 630 [Gene]
  • LOC129929974:ATAC-STARR-seq lymphoblastoid active region 631 [Gene]
  • LOC129929975:ATAC-STARR-seq lymphoblastoid active region 632 [Gene]
  • LOC129929978:ATAC-STARR-seq lymphoblastoid active region 635 [Gene]
  • LOC129929979:ATAC-STARR-seq lymphoblastoid active region 636 [Gene]
  • LOC129929950:ATAC-STARR-seq lymphoblastoid silent region 552 [Gene]
  • LOC129929951:ATAC-STARR-seq lymphoblastoid silent region 553 [Gene]
  • LOC129929952:ATAC-STARR-seq lymphoblastoid silent region 554 [Gene]
  • LOC129929953:ATAC-STARR-seq lymphoblastoid silent region 555 [Gene]
  • LOC129929955:ATAC-STARR-seq lymphoblastoid silent region 556 [Gene]
  • LOC129929958:ATAC-STARR-seq lymphoblastoid silent region 558 [Gene]
  • LOC129929959:ATAC-STARR-seq lymphoblastoid silent region 559 [Gene]
  • LOC129929976:ATAC-STARR-seq lymphoblastoid silent region 561 [Gene]
  • LOC129929977:ATAC-STARR-seq lymphoblastoid silent region 562 [Gene]
  • LOC129929980:ATAC-STARR-seq lymphoblastoid silent region 563 [Gene]
  • LOC126805675:BRD4-independent group 4 enhancer GRCh37_chr1:30042683-30043882 [Gene]
  • LOC126805680:BRD4-independent group 4 enhancer GRCh37_chr1:31424624-31425823 [Gene]
  • LOC126805678:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:31000145-31001344 [Gene]
  • LOC115801422:CRISPRi-validated cis-regulatory element chr1.4289 [Gene]
  • LOC115801423:CRISPRi-validated cis-regulatory element chr1.4291 [Gene]
  • MATN1-AS1:MATN1 antisense RNA 1 [Gene - HGNC]
  • LOC126805676:MED14-independent group 3 enhancer GRCh37_chr1:30182040-30183239 [Gene]
  • LOC129388481:MPRA-validated peak141 silencer [Gene]
  • LOC129388482:MPRA-validated peak142 silencer [Gene]
  • LOC129388483:MPRA-validated peak143 silencer [Gene]
  • LOC129388484:MPRA-validated peak146 silencer [Gene]
  • LOC129388485:MPRA-validated peak147 silencer [Gene]
  • LOC129388486:MPRA-validated peak152 silencer [Gene]
  • LOC129388487:MPRA-validated peak154 silencer [Gene]
  • LOC132088691:Neanderthal introgressed variant-containing enhancer experimental_6631 [Gene]
  • LOC132088692:Neanderthal introgressed variant-containing enhancer experimental_6672 [Gene]
  • LOC132088693:Neanderthal introgressed variant-containing enhancer experimental_6678 [Gene]
  • LOC126805677:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:30446776-30447975 [Gene]
  • LOC126805679:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:31090817-31092016 [Gene]
  • LOC122056822:Sharpr-MPRA regulatory region 1173 [Gene]
  • LOC122056821:Sharpr-MPRA regulatory region 1191 [Gene]
  • LOC122056820:Sharpr-MPRA regulatory region 12480 [Gene]
  • LOC113939988:Sharpr-MPRA regulatory region 13643 [Gene]
  • LOC121725008:Sharpr-MPRA regulatory region 1590 [Gene]
  • LOC120893127:Sharpr-MPRA regulatory region 4114 [Gene]
  • LOC122056818:Sharpr-MPRA regulatory region 8387 [Gene]
  • LOC122056819:Sharpr-MPRA regulatory region 9119 [Gene]
  • EPB41:erythrocyte membrane protein band 4.1 [Gene - OMIM - HGNC]
  • LINC01648:long intergenic non-protein coding RNA 1648 [Gene - HGNC]
  • LINC01756:long intergenic non-protein coding RNA 1756 [Gene - HGNC]
  • LINC01778:long intergenic non-protein coding RNA 1778 [Gene - HGNC]
  • LAPTM5:lysosomal protein transmembrane 5 [Gene - OMIM - HGNC]
  • MATN1:matrilin 1 [Gene - OMIM - HGNC]
  • MIR4420:microRNA 4420 [Gene - HGNC]
  • MECR:mitochondrial trans-2-enoyl-CoA reductase [Gene - OMIM - HGNC]
  • PTPRU:protein tyrosine phosphatase receptor type U [Gene - OMIM - HGNC]
  • PUM1:pumilio RNA binding family member 1 [Gene - OMIM - HGNC]
  • SRSF4:serine and arginine rich splicing factor 4 [Gene - OMIM - HGNC]
  • SNORD103A:small nucleolar RNA, C/D box 103A [Gene - HGNC]
  • SNORD103B:small nucleolar RNA, C/D box 103B [Gene - HGNC]
  • SNORD103C:small nucleolar RNA, C/D box 103C [Gene - HGNC]
  • SDC3:syndecan 3 [Gene - OMIM - HGNC]
  • TMEM200B:transmembrane protein 200B [Gene - HGNC]
  • LOC400748:uncharacterized LOC400748 [Gene]
Variant type:
copy number gain
Cytogenetic location:
1p35.3-35.2
Genomic location:
Preferred name:
GRCh38/hg38 1p35.3-35.2(chr1:29015141-30983083)x3
HGVS:
  • NC_000001.11:g.(?_29015141)_(30983083_?)dup
  • NC_000001.10:g.(?_29341653)_(31455930_?)dup
  • NC_000001.9:g.(?_29214240)_(31228517_?)dup
Links:
dbVar: nssv584467; dbVar: nsv498080
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000174589ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Aug 5, 2011)
maternalclinical testing

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

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, SCV000174589.4

#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