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GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 10, 2012
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:
RCV000142920.7

Allele description [Variation Report for GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3]

GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3

Genes:
  • LOC129929978:ATAC-STARR-seq lymphoblastoid active region 635 [Gene]
  • LOC129929979:ATAC-STARR-seq lymphoblastoid active region 636 [Gene]
  • LOC129929981:ATAC-STARR-seq lymphoblastoid active region 637 [Gene]
  • LOC129929983:ATAC-STARR-seq lymphoblastoid active region 640 [Gene]
  • LOC129929985:ATAC-STARR-seq lymphoblastoid active region 641 [Gene]
  • LOC129929987:ATAC-STARR-seq lymphoblastoid active region 642 [Gene]
  • LOC129929988:ATAC-STARR-seq lymphoblastoid active region 643 [Gene]
  • LOC129929990:ATAC-STARR-seq lymphoblastoid active region 644 [Gene]
  • LOC129929991:ATAC-STARR-seq lymphoblastoid active region 645 [Gene]
  • LOC129929993:ATAC-STARR-seq lymphoblastoid active region 646 [Gene]
  • LOC129929995:ATAC-STARR-seq lymphoblastoid active region 649 [Gene]
  • LOC129929997:ATAC-STARR-seq lymphoblastoid active region 651 [Gene]
  • LOC129929998:ATAC-STARR-seq lymphoblastoid active region 652 [Gene]
  • LOC129930002:ATAC-STARR-seq lymphoblastoid active region 653 [Gene]
  • LOC129930003:ATAC-STARR-seq lymphoblastoid active region 654 [Gene]
  • LOC129930005:ATAC-STARR-seq lymphoblastoid active region 655 [Gene]
  • LOC129930006:ATAC-STARR-seq lymphoblastoid active region 656 [Gene]
  • LOC129930007:ATAC-STARR-seq lymphoblastoid active region 657 [Gene]
  • LOC129930008:ATAC-STARR-seq lymphoblastoid active region 658 [Gene]
  • LOC129930009:ATAC-STARR-seq lymphoblastoid active region 659 [Gene]
  • LOC129930010:ATAC-STARR-seq lymphoblastoid active region 660 [Gene]
  • LOC129930012:ATAC-STARR-seq lymphoblastoid active region 661 [Gene]
  • LOC129930013:ATAC-STARR-seq lymphoblastoid active region 665 [Gene]
  • LOC129930014:ATAC-STARR-seq lymphoblastoid active region 666 [Gene]
  • LOC129930015:ATAC-STARR-seq lymphoblastoid active region 667 [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]
  • LOC129929982:ATAC-STARR-seq lymphoblastoid silent region 565 [Gene]
  • LOC129929984:ATAC-STARR-seq lymphoblastoid silent region 566 [Gene]
  • LOC129929986:ATAC-STARR-seq lymphoblastoid silent region 569 [Gene]
  • LOC129929989:ATAC-STARR-seq lymphoblastoid silent region 570 [Gene]
  • LOC129929992:ATAC-STARR-seq lymphoblastoid silent region 571 [Gene]
  • LOC129929994:ATAC-STARR-seq lymphoblastoid silent region 572 [Gene]
  • LOC129929996:ATAC-STARR-seq lymphoblastoid silent region 573 [Gene]
  • LOC129929999:ATAC-STARR-seq lymphoblastoid silent region 574 [Gene]
  • LOC129930000:ATAC-STARR-seq lymphoblastoid silent region 576 [Gene]
  • LOC129930001:ATAC-STARR-seq lymphoblastoid silent region 578 [Gene]
  • LOC129930004:ATAC-STARR-seq lymphoblastoid silent region 579 [Gene]
  • LOC129930011:ATAC-STARR-seq lymphoblastoid silent region 581 [Gene]
  • LOC129930016:ATAC-STARR-seq lymphoblastoid silent region 583 [Gene]
  • LOC126805680:BRD4-independent group 4 enhancer GRCh37_chr1:31424624-31425823 [Gene]
  • LOC126805683:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:31972634-31973833 [Gene]
  • LOC126805685:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:32145564-32146763 [Gene]
  • KHDRBS1:KH RNA binding domain containing, signal transduction associated 1 [Gene - OMIM - HGNC]
  • LOC129388488:MPRA-validated peak156 silencer [Gene]
  • LOC110594336:MS1 minisatellite repeat instability region [Gene]
  • LOC126805681:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:31926120-31927319 [Gene]
  • LOC126805682:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:31943609-31944808 [Gene]
  • LOC126805684:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:32070860-32072059 [Gene]
  • PEF1-AS1:PEF1 and COL16A1 antisense RNA 1 [Gene - HGNC]
  • LOC108254669:PTP4A2-KHDRBS1 intergenic CAGE-defined high expression enhancer [Gene]
  • SPOCD1:SPOC domain containing 1 [Gene - OMIM - HGNC]
  • LOC112577582:Sharpr-MPRA regulatory region 11964 [Gene]
  • LOC122056824:Sharpr-MPRA regulatory region 13821 [Gene]
  • LOC122056827:Sharpr-MPRA regulatory region 14090 [Gene]
  • LOC122056826:Sharpr-MPRA regulatory region 2178 [Gene]
  • LOC122056825:Sharpr-MPRA regulatory region 3310 [Gene]
  • LOC121725009:Sharpr-MPRA regulatory region 5533 [Gene]
  • LOC122056823:Sharpr-MPRA regulatory region 7682 [Gene]
  • ADGRB2:adhesion G protein-coupled receptor B2 [Gene - OMIM - HGNC]
  • COL16A1:collagen type XVI alpha 1 chain [Gene - OMIM - HGNC]
  • FABP3:fatty acid binding protein 3 [Gene - OMIM - HGNC]
  • HCRTR1:hypocretin receptor 1 [Gene - OMIM - HGNC]
  • LINC01226:long intergenic non-protein coding RNA 1226 [Gene - HGNC]
  • MIR4254:microRNA 4254 [Gene - HGNC]
  • PEF1:penta-EF-hand domain containing 1 [Gene - OMIM - HGNC]
  • PTP4A2:protein tyrosine phosphatase 4A2 [Gene - OMIM - HGNC]
  • PUM1:pumilio RNA binding family member 1 [Gene - OMIM - HGNC]
  • SERINC2:serine incorporator 2 [Gene - OMIM - HGNC]
  • SNRNP40:small nuclear ribonucleoprotein U5 subunit 40 [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]
  • NKAIN1:sodium/potassium transporting ATPase interacting 1 [Gene - OMIM - HGNC]
  • SDC3:syndecan 3 [Gene - OMIM - HGNC]
  • TINAGL1:tubulointerstitial nephritis antigen like 1 [Gene - OMIM - HGNC]
  • LOC105378626:uncharacterized LOC105378626 [Gene]
  • LOC128031832:uncharacterized LOC128031832 [Gene]
  • ZCCHC17:zinc finger CCHC-type containing 17 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1p35.2
Genomic location:
Preferred name:
GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3
HGVS:
  • NC_000001.11:g.(?_30864842)_(32021241_?)dup
  • NC_000001.10:g.(?_31337689)_(32486842_?)dup
  • NC_000001.9:g.(?_31110276)_(32259429_?)dup
Links:
dbVar: nssv1602204; dbVar: nsv916194
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
SCV000179316ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Sep 10, 2012) 		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, SCV000179316.4

#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