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NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 15, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000285494.6
Variation ID:
285494
Description:
single nucleotide variant
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NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys)

Allele ID
269731
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q11.2
Genomic location
14: 21431382 (GRCh38) GRCh38 UCSC
14: 21899541 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.21899541C>T
NC_000014.9:g.21431382C>T
NM_001170629.2:c.262G>A MANE Select NP_001164100.1:p.Glu88Lys missense
... more HGVS
Protein change
E88K
Other names
-
Canonical SPDI
NC_000014.9:21431381:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (T)

Allele frequency
1000 Genomes Project 0.00160
The Genome Aggregation Database (gnomAD), exomes 0.00044
Trans-Omics for Precision Medicine (TOPMed) 0.00238
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00263
Exome Aggregation Consortium (ExAC) 0.00079
The Genome Aggregation Database (gnomAD) 0.00194
Links
ClinGen: CA7091976
dbSNP: rs78640816
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Dec 31, 2019 RCV000872901.3
Likely benign 1 criteria provided, single submitter Jan 14, 2016 RCV000399850.1
Likely benign 1 criteria provided, single submitter Jul 24, 2018 RCV000719985.1
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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
Likely benign
(Jan 14, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000338538.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001014792.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Jul 24, 2018)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000850859.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Benign
(Aug 23, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001752235.1
Submitted: (Jul 15, 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 rs78640816...

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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 Aug 17, 2021