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NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Feb 21, 2021)
Last evaluated:
Sep 6, 2019
Accession:
VCV000284182.4
Variation ID:
284182
Description:
single nucleotide variant
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NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)

Allele ID
268419
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q11.2
Genomic location
14: 21428145 (GRCh38) GRCh38 UCSC
14: 21896304 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.21896304C>T
NC_000014.9:g.21428145C>T
NM_001170629.2:c.1325G>A MANE Select NP_001164100.1:p.Gly442Glu missense
... more HGVS
Protein change
G163E, G442E
Other names
-
Canonical SPDI
NC_000014.9:21428144:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00014
1000 Genomes Project 0.00020
Links
ClinGen: CA7091790
dbSNP: rs553367989
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 30, 2015 RCV000289922.1
Likely benign 1 criteria provided, single submitter May 6, 2019 RCV000719883.1
Uncertain significance 1 criteria provided, single submitter Sep 6, 2019 RCV001330440.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CHD8 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
375 415

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 30, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000336701.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(May 06, 2019)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000850754.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Other data supporting benign classification
Uncertain significance
(Sep 06, 2019)
criteria provided, single submitter
Method: clinical testing
Autism, susceptibility to, 18
Allele origin: unknown
Baylor Genetics
Accession: SCV001522120.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CHD8 - - - -

Text-mined citations for rs553367989...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 08, 2021