Single allele AND Autism spectrum disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 12, 2015
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:: RCV000225368.1

Allele description [Variation Report for Single allele]

Variant type:: Deletion
Cytogenetic location:: 1q21.1
Genomic location:: Chr1: 144943150 - 146293282 (on Assembly NCBI36)
HGVS:: NC_000001.9:g.144943150_146293282del
This HGVS expression did not pass validation

Condition(s)

Name:: Autism spectrum disorder
Synonyms:: Autism spectrum disorders
Identifiers:: MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000282097	Geschwind lab, University of California Los Angeles	criteria provided, single submitter (ACMG CNV Guidelines 2011)	Pathogenic (Oct 12, 2015)	de novo	research	PubMed (4) [See all records that cite these PMIDs] 23044707, 21844811, 25741868, 27569545

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000282097

Geschwind lab, University of California Los Angeles

criteria provided, single submitter

(ACMG CNV Guidelines 2011)

Pathogenic
(Oct 12, 2015)

de novo

research

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	1	not provided	not provided	not provided	research

Citations

PubMed

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.

Moreno-De-Luca D, Sanders SJ, Willsey AJ, Mulle JG, Lowe JK, Geschwind DH, State MW, Martin CL, Ledbetter DH.

Mol Psychiatry. 2013 Oct;18(10):1090-5. doi: 10.1038/mp.2012.138. Epub 2012 Oct 9.

PubMed [citation]

PMID:: 23044707
PMCID:: PMC3720840

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

See all PubMed Citations (4)

Details of each submission

From Geschwind lab, University of California Los Angeles, SCV000282097.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (4)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: May 6, 2023

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