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NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 17, 2021)
Last evaluated:
Feb 10, 2020
Accession:
VCV000196670.4
Variation ID:
196670
Description:
single nucleotide variant
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NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys)

Allele ID
193831
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q11.2
Genomic location
14: 21393710 (GRCh38) GRCh38 UCSC
14: 21861869 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.21861869C>T
NC_000014.9:g.21393710C>T
NG_021249.1:g.48589G>A
... more HGVS
Protein change
E1750K, E2029K
Other names
-
Canonical SPDI
NC_000014.9:21393709:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00032
Trans-Omics for Precision Medicine (TOPMed) 0.00049
The Genome Aggregation Database (gnomAD), exomes 0.00082
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00082
The Genome Aggregation Database (gnomAD) 0.00035
Links
ClinGen: CA243736
dbSNP: rs145300090
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Mar 10, 2018 RCV000719345.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 10, 2020 RCV000177525.2
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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
(Feb 17, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000229408.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Mar 10, 2018)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000850211.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)
Benign
(Feb 10, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001886759.1
Submitted: (Sep 17, 2021)
Evidence details

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 rs145300090...

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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 Sep 18, 2021