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NM_020549.5(CHAT):c.1135G>C (p.Asp379His)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 1, 2021)
Last evaluated:
Jun 7, 2021
Accession:
VCV000261327.7
Variation ID:
261327
Description:
single nucleotide variant
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NM_020549.5(CHAT):c.1135G>C (p.Asp379His)

Allele ID
253783
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.23
Genomic location
10: 49646528 (GRCh38) GRCh38 UCSC
10: 50854574 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.50854574G>C
NM_020549.4:c.1135G>C NP_065574.3:p.Asp379His missense
NC_000010.10:g.50854574G>C
... more HGVS
Protein change
D261H, D379H, D297H
Other names
-
Canonical SPDI
NC_000010.11:49646527:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00359 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00062
Exome Aggregation Consortium (ExAC) 0.00082
The Genome Aggregation Database (gnomAD) 0.00226
Trans-Omics for Precision Medicine (TOPMed) 0.00302
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00292
1000 Genomes Project 0.00359
Links
ClinGen: CA5497395
dbSNP: rs115212829
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Jul 29, 2015 RCV000247029.2
Likely benign 1 criteria provided, single submitter Dec 1, 2020 RCV000558320.4
Likely benign 1 criteria provided, single submitter Jun 7, 2021 RCV001582873.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CHAT - - GRCh38
GRCh37
401 499

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000313612.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jul 29, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000333090.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
Familial infantile myasthenia
Allele origin: germline
Invitae
Accession: SCV000634108.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jun 07, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001819785.1
Submitted: (Sep 01, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 26582918)

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=CHAT - - - -

Text-mined citations for rs115212829...

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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 24, 2021