Single allele AND Autism spectrum disorder

Germline classification:: Uncertain significance (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:: RCV000225528.1

Allele description [Variation Report for Single allele]

Gene:: CYFIP1:cytoplasmic FMR1 interacting protein 1 [Gene - OMIM - HGNC]
Variant type:: Duplication
Cytogenetic location:: 15q11.2
Genomic location:: Chr15: 19852603 - 20778963 (on Assembly NCBI36)
HGVS:: NC_000015.8:g.19852603_20778963dup
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
SCV000282147	Geschwind lab, University of California Los Angeles	criteria provided, single submitter (ACMG CNV Guidelines 2011)	Uncertain significance (Oct 12, 2015)	unknown	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 27569545

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000282147

Geschwind lab, University of California Los Angeles

criteria provided, single submitter

(ACMG CNV Guidelines 2011)

Uncertain significance
(Oct 12, 2015)

unknown

research

PubMed (2)
[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	unknown	no	1	1	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

Leppa VM, Kravitz SN, Martin CL, Andrieux J, Le Caignec C, Martin-Coignard D, DyBuncio C, Sanders SJ, Lowe JK, Cantor RM, Geschwind DH.

Am J Hum Genet. 2016 Sep 1;99(3):540-554. doi: 10.1016/j.ajhg.2016.06.036. Epub 2016 Aug 25.

PubMed [citation]

PMID:: 27569545
PMCID:: PMC5011063

Details of each submission

From Geschwind lab, University of California Los Angeles, SCV000282147.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (2)

Description

The CNV is pathogenic but didn’t cause the disorder in this individual due to incomplete penetrance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	no	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: May 6, 2023

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Relating variation to medicine