NM_001170629.2(CHD8):c.2345del (p.His782fs) AND Autism spectrum disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 22, 2018
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:: RCV001265459.1

Allele description [Variation Report for NM_001170629.2(CHD8):c.2345del (p.His782fs)]

NM_001170629.2(CHD8):c.2345del (p.His782fs)

Gene:

CHD8:chromodomain helicase DNA binding protein 8 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_001170629.2(CHD8):c.2345del (p.His782fs)

HGVS:

NC_000014.9:g.21409870del
NG_021249.1:g.32429del
NM_001170629.2:c.2345delMANE SELECT
NM_020920.4:c.1508del
NP_001164100.1:p.His782fs
NP_065971.2:p.His503fs
NC_000014.8:g.21878029del
NM_001170629.1:c.2345delA

Protein change:

H503fs

Links:

dbSNP: rs886039692

NCBI 1000 Genomes Browser:

rs886039692

Molecular consequence:

NM_001170629.2:c.2345del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_020920.4:c.1508del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001443591	GenomeConnect - Simons Searchlight	no assertion criteria provided	Pathogenic (Jun 22, 2018)	de novo	provider interpretation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001443591

GenomeConnect - Simons Searchlight

no assertion criteria provided

Pathogenic
(Jun 22, 2018)

de novo

provider interpretation

Help

Summary from all submissions

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

Details of each submission

From GenomeConnect - Simons Searchlight, SCV001443591.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	not provided

Description

Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-06-22 and interpreted as Pathogenic. Variant was initially reported on 2016-08-22 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

#	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		not provided	not provided	not provided	not provided

Last Updated: May 6, 2023

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