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NM_001170629.2(CHD8):c.341C>T (p.Thr114Met)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000284743.5
Variation ID:
284743
Description:
single nucleotide variant
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NM_001170629.2(CHD8):c.341C>T (p.Thr114Met)

Allele ID
268980
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q11.2
Genomic location
14: 21431303 (GRCh38) GRCh38 UCSC
14: 21899462 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.21899462G>A
NC_000014.9:g.21431303G>A
NM_001170629.2:c.341C>T MANE Select NP_001164100.1:p.Thr114Met missense
... more HGVS
Protein change
T114M
Other names
-
Canonical SPDI
NC_000014.9:21431302:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00088
1000 Genomes Project 0.00140
Exome Aggregation Consortium (ExAC) 0.00051
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00044
The Genome Aggregation Database (gnomAD) 0.00070
The Genome Aggregation Database (gnomAD), exomes 0.00024
Links
ClinGen: CA7091970
dbSNP: rs111250264
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 May 11, 2017 RCV000718693.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 31, 2019 RCV000370260.3
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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
Uncertain significance
(Dec 08, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000337481.4
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: SCV001018068.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(May 11, 2017)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000849557.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Other data supporting benign classification;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 rs111250264...

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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