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GRCh37/hg19 22q13.31-13.32(chr22:46406694-48524541)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 22, 2014
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:
RCV000512399.3

Allele description [Variation Report for GRCh37/hg19 22q13.31-13.32(chr22:46406694-48524541)x1]

GRCh37/hg19 22q13.31-13.32(chr22:46406694-48524541)x1

Genes:
  • GTSE1:G2 and S-phase expressed 1 [Gene - OMIM - HGNC]
  • GRAMD4:GRAM domain containing 4 [Gene - OMIM - HGNC]
  • PRR34:PRR34 long non-coding RNA [Gene - HGNC]
  • TBC1D22A:TBC1 domain family member 22A [Gene - OMIM - HGNC]
  • CELSR1:cadherin EGF LAG seven-pass G-type receptor 1 [Gene - OMIM - HGNC]
  • CERK:ceramide kinase [Gene - OMIM - HGNC]
  • CDPF1:cysteine rich DPF motif domain containing 1 [Gene - HGNC]
  • MIRLET7A3:microRNA let-7a-3 [Gene - OMIM - HGNC]
  • MIRLET7B:microRNA let-7b [Gene - OMIM - HGNC]
  • PPARA:peroxisome proliferator activated receptor alpha [Gene - OMIM - HGNC]
  • PKDREJ:polycystin family receptor for egg jelly [Gene - OMIM - HGNC]
  • TRMU:tRNA mitochondrial 2-thiouridylase [Gene - OMIM - HGNC]
  • TTC38:tetratricopeptide repeat domain 38 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
22q13.31-13.32
Genomic location:
Chr22: 46406694 - 48524541 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q13.31-13.32(chr22:46406694-48524541)x1
HGVS:
NC_000022.10:g.(?_46406694)_(48524541_?)del
Links:
dbVar: nssv13653715; dbVar: nsv2775648
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
SCV000585537ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Oct 22, 2014) 		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, SCV000585537.1

#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