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NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 10, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000196943.6
Variation ID:
196943
Description:
single nucleotide variant
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NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys)

Allele ID
194104
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q11.2
Genomic location
14: 21391492 (GRCh38) GRCh38 UCSC
14: 21859651 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.21859651C>T
NC_000014.9:g.21391492C>T
NG_021249.1:g.50807G>A
... more HGVS
Protein change
E2067K, E2346K
Other names
-
Canonical SPDI
NC_000014.9:21391491:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00073
The Genome Aggregation Database (gnomAD) 0.00038
The Genome Aggregation Database (gnomAD), exomes 0.00147
Trans-Omics for Precision Medicine (TOPMed) 0.00082
Exome Aggregation Consortium (ExAC) 0.00104
Links
ClinGen: CA244769
dbSNP: rs200465274
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jul 21, 2017 RCV000177833.2
Benign 1 criteria provided, single submitter Jun 10, 2019 RCV000719901.1
Likely benign 2 criteria provided, single submitter Dec 31, 2019 RCV000873979.3
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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
Benign
(Jul 21, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000229777.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001016082.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(Jun 10, 2019)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000850773.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Benign
(Feb 12, 2020)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001848229.1
Submitted: (Sep 10, 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 rs200465274...

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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 12, 2021