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NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=)

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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: Jul 4, 2021)
Last evaluated:
Apr 1, 2021
Accession:
VCV000196999.3
Variation ID:
196999
Description:
single nucleotide variant
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NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=)

Allele ID
194160
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q11.2
Genomic location
14: 21385739 (GRCh38) GRCh38 UCSC
14: 21853898 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.21853898G>A
NC_000014.9:g.21385739G>A
NM_001170629.2:c.7620C>T MANE Select NP_001164100.1:p.Asp2540= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:21385738:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00090
The Genome Aggregation Database (gnomAD) 0.00035
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00066
1000 Genomes Project 0.00040
Trans-Omics for Precision Medicine (TOPMed) 0.00055
Exome Aggregation Consortium (ExAC) 0.00091
Links
ClinGen: CA244876
dbSNP: rs367905297
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Apr 1, 2021 RCV000177902.3
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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
353 393

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 28, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000229861.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Aug 02, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001018513.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Apr 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001748419.1
Submitted: (Jul 04, 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 rs367905297...

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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 Jul 13, 2021