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NM_001170629.2(CHD8):c.5390+10A>T

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000196165.3
Variation ID:
196165
Description:
single nucleotide variant
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NM_001170629.2(CHD8):c.5390+10A>T

Allele ID
193326
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q11.2
Genomic location
14: 21394902 (GRCh38) GRCh38 UCSC
14: 21863061 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.21863061T>A
NC_000014.9:g.21394902T>A
NM_001170629.2:c.5390+10A>T MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:21394901:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00080
The Genome Aggregation Database (gnomAD) 0.00153
The Genome Aggregation Database (gnomAD), exomes 0.00084
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00117
Trans-Omics for Precision Medicine (TOPMed) 0.00108
Links
ClinGen: CA243035
dbSNP: rs181227407
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 2 criteria provided, conflicting interpretations Dec 31, 2019 RCV000176922.4
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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
(May 12, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000228699.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://exac.broadinstitute.org/g…
http://www.ncbi.nlm.nih.gov/vari…
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001018604.2
Submitted: (Jan 29, 2020)
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.

Text-mined citations for rs181227407...

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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 Oct 30, 2020