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NM_001170629.2(CHD8):c.1791AGA[3] (p.Glu601del)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Aug 17, 2021)
Last evaluated:
Sep 30, 2018
Accession:
VCV000623834.3
Variation ID:
623834
Description:
3bp microsatellite
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NM_001170629.2(CHD8):c.1791AGA[3] (p.Glu601del)

Allele ID
612981
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
14q11.2
Genomic location
14: 21415822-21415824 (GRCh38) GRCh38 UCSC
14: 21883981-21883983 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.21883983TTC[3]
NC_000014.9:g.21415824TTC[3]
NM_001170629.2:c.1791AGA[3] MANE Select NP_001164100.1:p.Glu601del
... more HGVS
Protein change
E601del, E322del
Other names
-
Canonical SPDI
NC_000014.9:21415821:TCTTCTTCTTCTTC:TCTTCTTCTTC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs757502536
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 Sep 30, 2018 RCV000761866.3
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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
(Sep 30, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000892080.1
Submitted: (Oct 23, 2018)
Evidence details
Likely benign
(Feb 09, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001044560.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Oct 18, 2019)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001787217.1
Submitted: (Aug 17, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs757502536...

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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 27, 2021