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GRCh38/hg38 1q42.2(chr1:230693760-230780212)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000053984.5

Allele description [Variation Report for GRCh38/hg38 1q42.2(chr1:230693760-230780212)x1]

GRCh38/hg38 1q42.2(chr1:230693760-230780212)x1

Genes:
LOC122152334:Sharpr-MPRA regulatory region 2465 [Gene]
LOC110121263:VISTA enhancer hs2133 [Gene]
AGT:angiotensinogen [Gene - OMIM - HGNC]
CAPN9:calpain 9 [Gene - OMIM - HGNC]
COG2:component of oligomeric golgi complex 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q42.2
Genomic location:
Preferred name:
GRCh38/hg38 1q42.2(chr1:230693760-230780212)x1
HGVS:
  • NC_000001.11:g.(?_230693760)_(230780212_?)del
  • NC_000001.10:g.(?_230829506)_(230915958_?)del
  • NC_000001.9:g.(?_228896129)_(228982581_?)del
Links:
dbVar: nssv577247; dbVar: nsv532652
Observations:
1

Condition(s)

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

Recent activity

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  • Exidiopsis sp. RJB11821 18S ribosomal RNA gene, partial sequence; internal trans...
    Exidiopsis sp. RJB11821 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
    gi|40846327|gb|AY509549.1|
    Nucleotide
  • Human Prader-Willi/Angelman syndrome region mRNA
    Human Prader-Willi/Angelman syndrome region mRNA
    gi|438647|gb|L25446.1|HUMPAR2PA
    Nucleotide
  • Shock, Cardiogenic
    Shock, Cardiogenic
    Shock resulting from diminution of cardiac output in heart disease.<br/>Year introduced: 1971
    MeSH
  • Middle Lobe Syndrome
    Middle Lobe Syndrome
    Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)<br/>
    MeSH
  • Non-ST Elevated Myocardial Infarction
    Non-ST Elevated Myocardial Infarction
    A myocardial infarction that does not produce elevations in the ST segments of the ELECTROCARDIOGRAM. ST segment elevation of the ECG is often used in determining the treatmen...<br/>Year introduced: 2017
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000081347GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical 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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000081347.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Apr 23, 2022