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NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000279764.5
Variation ID:
279764
Description:
single nucleotide variant
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NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe)

Allele ID
264530
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q11.2
Genomic location
14: 21429308 (GRCh38) GRCh38 UCSC
14: 21897467 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.21897467G>A
NC_000014.9:g.21429308G>A
NM_001170629.2:c.871C>T MANE Select NP_001164100.1:p.Leu291Phe missense
... more HGVS
Protein change
L12F, L291F
Other names
-
Canonical SPDI
NC_000014.9:21429307:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00095
The Genome Aggregation Database (gnomAD) 0.00073
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00074
Trans-Omics for Precision Medicine (TOPMed) 0.00109
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD), exomes 0.00113
Links
ClinGen: CA7091873
dbSNP: rs192989929
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 Oct 6, 2015 RCV000372172.2
Likely benign 1 criteria provided, single submitter Jun 12, 2018 RCV000719933.1
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV000876656.2
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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
310 350

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 06, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000335409.4
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: SCV001019254.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Jun 12, 2018)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000850805.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Does not segregate with disease in family study (genes with incomplete penetrance);Subpopulation frequency in support of benign classification

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 rs192989929...

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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 Dec 07, 2020