U.S. flag

An official website of the United States government

GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 1, 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:
RCV000138892.5

Allele description [Variation Report for GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4]

GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4

Genes:
  • ADPRS:ADP-ribosylserine hydrolase [Gene - OMIM - HGNC]
  • LOC129930124:ATAC-STARR-seq lymphoblastoid active region 741 [Gene]
  • LOC129930128:ATAC-STARR-seq lymphoblastoid active region 745 [Gene]
  • LOC129930129:ATAC-STARR-seq lymphoblastoid active region 746 [Gene]
  • LOC129930131:ATAC-STARR-seq lymphoblastoid active region 747 [Gene]
  • LOC129930134:ATAC-STARR-seq lymphoblastoid active region 751 [Gene]
  • LOC129930138:ATAC-STARR-seq lymphoblastoid active region 754 [Gene]
  • LOC129930140:ATAC-STARR-seq lymphoblastoid active region 756 [Gene]
  • LOC129930141:ATAC-STARR-seq lymphoblastoid active region 757 [Gene]
  • LOC129930142:ATAC-STARR-seq lymphoblastoid active region 758 [Gene]
  • LOC129930143:ATAC-STARR-seq lymphoblastoid active region 759 [Gene]
  • LOC129930144:ATAC-STARR-seq lymphoblastoid active region 760 [Gene]
  • LOC129930145:ATAC-STARR-seq lymphoblastoid active region 761 [Gene]
  • LOC129930125:ATAC-STARR-seq lymphoblastoid silent region 654 [Gene]
  • LOC129930126:ATAC-STARR-seq lymphoblastoid silent region 655 [Gene]
  • LOC129930127:ATAC-STARR-seq lymphoblastoid silent region 656 [Gene]
  • LOC129930130:ATAC-STARR-seq lymphoblastoid silent region 657 [Gene]
  • LOC129930132:ATAC-STARR-seq lymphoblastoid silent region 659 [Gene]
  • LOC129930133:ATAC-STARR-seq lymphoblastoid silent region 660 [Gene]
  • LOC129930135:ATAC-STARR-seq lymphoblastoid silent region 666 [Gene]
  • LOC129930136:ATAC-STARR-seq lymphoblastoid silent region 667 [Gene]
  • LOC129930137:ATAC-STARR-seq lymphoblastoid silent region 668 [Gene]
  • LOC129930139:ATAC-STARR-seq lymphoblastoid silent region 669 [Gene]
  • LOC126805699:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:36929292-36930491 [Gene]
  • LOC115801424:CRISPRi-validated cis-regulatory element chr1.4865 [Gene]
  • LSM10:LSM10, U7 small nuclear RNA associated [Gene - OMIM - HGNC]
  • MAP7D1:MAP7 domain containing 1 [Gene - HGNC]
  • LOC126805696:MED14-independent group 3 enhancer GRCh37_chr1:36499894-36501093 [Gene]
  • LOC126805697:MED14-independent group 3 enhancer GRCh37_chr1:36638149-36639348 [Gene]
  • LOC129388496:MPRA-validated peak176 silencer [Gene]
  • LOC132090662:Neanderthal introgressed variant-containing enhancer experimental_7558 [Gene]
  • LOC112577587:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:36839045-36840244 [Gene]
  • LOC126805698:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:36851839-36853038 [Gene]
  • SH3D21:SH3 domain containing 21 [Gene - HGNC]
  • LOC122056840:Sharpr-MPRA regulatory region 1123 [Gene]
  • LOC112577588:Sharpr-MPRA regulatory region 11440 [Gene]
  • LOC112577586:Sharpr-MPRA regulatory region 2392 [Gene]
  • LOC122056839:Sharpr-MPRA regulatory region 4345 [Gene]
  • LOC121725012:Sharpr-MPRA regulatory region 618 [Gene]
  • LOC111828505:Sharpr-MPRA regulatory regions 10257 and 14041 [Gene]
  • AGO3:argonaute RISC catalytic component 3 [Gene - OMIM - HGNC]
  • COL8A2:collagen type VIII alpha 2 chain [Gene - OMIM - HGNC]
  • CSF3R:colony stimulating factor 3 receptor [Gene - OMIM - HGNC]
  • EVA1B:eva-1 homolog B [Gene - HGNC]
  • GRIK3:glutamate ionotropic receptor kainate type subunit 3 [Gene - OMIM - HGNC]
  • MRPS15:mitochondrial ribosomal protein S15 [Gene - OMIM - HGNC]
  • OSCP1:organic solute carrier partner 1 [Gene - OMIM - HGNC]
  • STK40:serine/threonine kinase 40 [Gene - OMIM - HGNC]
  • SNORA63C:small nucleolar RNA, H/ACA box 63C [Gene - HGNC]
  • TEKT2:tektin 2 [Gene - OMIM - HGNC]
  • THRAP3:thyroid hormone receptor associated protein 3 [Gene - OMIM - HGNC]
  • TRAPPC3:trafficking protein particle complex subunit 3 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1p34.3
Genomic location:
Preferred name:
GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4
HGVS:
  • NC_000001.11:g.(?_35934217)_(36821999_?)dup
  • NC_000001.10:g.(?_36399818)_(37287600_?)dup
  • NC_000001.9:g.(?_36172405)_(37060187_?)dup
Links:
dbVar: nssv1602226; dbVar: nsv916208
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000179330ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Jun 1, 2012) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000179330.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024