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GRCh38/hg38 1q41(chr1:216598114-218007334)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 3, 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:
RCV000138050.5

Allele description [Variation Report for GRCh38/hg38 1q41(chr1:216598114-218007334)x3]

GRCh38/hg38 1q41(chr1:216598114-218007334)x3

Genes:
  • LOC129932506:ATAC-STARR-seq lymphoblastoid active region 2536 [Gene]
  • LOC129932508:ATAC-STARR-seq lymphoblastoid active region 2537 [Gene]
  • LOC129932509:ATAC-STARR-seq lymphoblastoid active region 2538 [Gene]
  • LOC129932505:ATAC-STARR-seq lymphoblastoid silent region 1817 [Gene]
  • LOC129932507:ATAC-STARR-seq lymphoblastoid silent region 1818 [Gene]
  • GPATCH2:G-patch domain containing 2 [Gene - OMIM - HGNC]
  • LOC129388750:MPRA-validated peak697 silencer [Gene]
  • LOC132088649:Neanderthal introgressed variant-containing enhancer experimental_4286 [Gene]
  • LOC132088650:Neanderthal introgressed variant-containing enhancer experimental_4347 [Gene]
  • LOC132088651:Neanderthal introgressed variant-containing enhancer experimental_4384 [Gene]
  • LOC132088652:Neanderthal introgressed variant-containing enhancer experimental_4410 [Gene]
  • LOC132088653:Neanderthal introgressed variant-containing enhancer experimental_4481 [Gene]
  • LOC126806010:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:217833249-217834448 [Gene]
  • SPATA17-AS1:SPATA17 antisense RNA 1 [Gene - HGNC]
  • LOC122152297:Sharpr-MPRA regulatory region 11696 [Gene]
  • LOC120908907:Sharpr-MPRA regulatory region 1545 [Gene]
  • LOC122152298:Sharpr-MPRA regulatory region 1921 [Gene]
  • LOC122152299:Sharpr-MPRA regulatory region 7160 [Gene]
  • ESRRG:estrogen related receptor gamma [Gene - OMIM - HGNC]
  • LINC00210:long intergenic non-protein coding RNA 210 [Gene - HGNC]
  • SPATA17:spermatogenesis associated 17 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1q41
Genomic location:
Preferred name:
GRCh38/hg38 1q41(chr1:216598114-218007334)x3
HGVS:
  • NC_000001.11:g.(?_216598114)_(218007334_?)dup
  • NC_000001.10:g.(?_216771456)_(218180676_?)dup
  • NC_000001.9:g.(?_214838079)_(216247299_?)dup
Links:
dbVar: nssv1495169; dbVar: nsv869240
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
SCV000178310ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jan 3, 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, SCV000178310.4

#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