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GRCh38/hg38 4p16.2-16.1(chr4:5802938-6159712)x3 AND See cases

Germline classification:
conflicting data from submitters (1 submission)
Last evaluated:
Jul 18, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
conflicting data from submitters (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:
RCV000142220.6

Allele description [Variation Report for GRCh38/hg38 4p16.2-16.1(chr4:5802938-6159712)x3]

GRCh38/hg38 4p16.2-16.1(chr4:5802938-6159712)x3

Genes:
  • LOC129992148:ATAC-STARR-seq lymphoblastoid active region 21246 [Gene]
  • LOC129992150:ATAC-STARR-seq lymphoblastoid active region 21247 [Gene]
  • LOC129992151:ATAC-STARR-seq lymphoblastoid active region 21248 [Gene]
  • LOC129992152:ATAC-STARR-seq lymphoblastoid active region 21249 [Gene]
  • LOC129992153:ATAC-STARR-seq lymphoblastoid active region 21250 [Gene]
  • LOC129992149:ATAC-STARR-seq lymphoblastoid silent region 15225 [Gene]
  • LOC126806964:BRD4-independent group 4 enhancer GRCh37_chr4:6050907-6052106 [Gene]
  • EVC:EvC ciliary complex subunit 1 [Gene - OMIM - HGNC]
  • C4orf50:chromosome 4 open reading frame 50 [Gene - HGNC]
  • CRMP1:collapsin response mediator protein 1 [Gene - OMIM - HGNC]
  • JAKMIP1:janus kinase and microtubule interacting protein 1 [Gene - OMIM - HGNC]
  • MIR378D1:microRNA 378d-1 [Gene - HGNC]
  • LOC128125818:uncharacterized LOC128125818 [Gene]
Variant type:
copy number gain
Cytogenetic location:
4p16.2-16.1
Genomic location:
Preferred name:
GRCh38/hg38 4p16.2-16.1(chr4:5802938-6159712)x3
HGVS:
  • NC_000004.12:g.(?_5802938)_(6159712_?)dup
  • NC_000004.11:g.(?_5804665)_(6161439_?)dup
Links:
dbVar: nssv13638496; dbVar: nssv3395214; dbVar: nsv996061
Observations:
2

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
SCV000183490ISCA site 1

See additional submitters

no assertion criteria provided
conflicting data from submitters
(Jul 18, 2014) 		unknown, maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing
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, SCV000183490.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)

Description

Uncertain significance(1), Likely benign (1)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided
2maternalyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024