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GRCh38/hg38 1p36.12(chr1:21495674-22049209)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 8, 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:
RCV000137363.6

Allele description [Variation Report for GRCh38/hg38 1p36.12(chr1:21495674-22049209)x3]

GRCh38/hg38 1p36.12(chr1:21495674-22049209)x3

Genes:
  • LOC129929619:ATAC-STARR-seq lymphoblastoid active region 334 [Gene]
  • LOC129929625:ATAC-STARR-seq lymphoblastoid active region 336 [Gene]
  • LOC129929626:ATAC-STARR-seq lymphoblastoid active region 337 [Gene]
  • LOC129929628:ATAC-STARR-seq lymphoblastoid active region 341 [Gene]
  • LOC129929630:ATAC-STARR-seq lymphoblastoid active region 345 [Gene]
  • LOC129929633:ATAC-STARR-seq lymphoblastoid active region 347 [Gene]
  • LOC129929618:ATAC-STARR-seq lymphoblastoid silent region 383 [Gene]
  • LOC129929620:ATAC-STARR-seq lymphoblastoid silent region 384 [Gene]
  • LOC129929621:ATAC-STARR-seq lymphoblastoid silent region 385 [Gene]
  • LOC129929622:ATAC-STARR-seq lymphoblastoid silent region 386 [Gene]
  • LOC129929623:ATAC-STARR-seq lymphoblastoid silent region 387 [Gene]
  • LOC129929624:ATAC-STARR-seq lymphoblastoid silent region 388 [Gene]
  • LOC129929627:ATAC-STARR-seq lymphoblastoid silent region 390 [Gene]
  • LOC129929629:ATAC-STARR-seq lymphoblastoid silent region 391 [Gene]
  • LOC129929631:ATAC-STARR-seq lymphoblastoid silent region 392 [Gene]
  • LOC129929632:ATAC-STARR-seq lymphoblastoid silent region 393 [Gene]
  • LOC126805655:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:22178409-22179608 [Gene]
  • LOC126805654:MED14-independent group 3 enhancer GRCh37_chr1:21996570-21997769 [Gene]
  • LOC132088665:Neanderthal introgressed variant-containing enhancer experimental_5374 [Gene]
  • RAP1GAP:RAP1 GTPase activating protein [Gene - OMIM - HGNC]
  • LOC121725003:Sharpr-MPRA regulatory region 12165 [Gene]
  • LOC120893122:Sharpr-MPRA regulatory region 3950 [Gene]
  • LOC122056784:Sharpr-MPRA regulatory region 4422 [Gene]
  • LOC120893121:Sharpr-MPRA regulatory region 6146 [Gene]
  • ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]
  • CELA3A:chymotrypsin like elastase 3A [Gene - OMIM - HGNC]
  • CELA3B:chymotrypsin like elastase 3B [Gene - OMIM - HGNC]
  • HSPG2:heparan sulfate proteoglycan 2 [Gene - OMIM - HGNC]
  • LINC01635:long intergenic non-protein coding RNA 1635 [Gene - HGNC]
  • LINC02596:long intergenic non-protein coding RNA 2596 [Gene - HGNC]
  • LINC00339:long intergenic non-protein coding RNA 339 [Gene - HGNC]
  • LDLRAD2:low density lipoprotein receptor class A domain containing 2 [Gene - HGNC]
  • USP48:ubiquitin specific peptidase 48 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
GRCh38/hg38 1p36.12(chr1:21495674-22049209)x3
HGVS:
  • NC_000001.11:g.(?_21495674)_(22049209_?)dup
  • NC_000001.10:g.(?_21822167)_(22375702_?)dup
  • NC_000001.9:g.(?_21694754)_(22248289_?)dup
Links:
dbVar: nssv1415184; dbVar: nsv817290
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
SCV000177583ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Apr 8, 2011) 		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, SCV000177583.4

#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