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NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 30, 2021)
Last evaluated:
Feb 23, 2021
Accession:
VCV000312642.10
Variation ID:
312642
Description:
single nucleotide variant
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NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)

Allele ID
337211
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.31
Genomic location
14: 102027186 (GRCh38) GRCh38 UCSC
14: 102493523 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.102493523A>G
NC_000014.9:g.102027186A>G
NG_008777.1:g.67659A>G
NM_001376.5:c.8784A>G MANE Select NP_001367.2:p.Gln2928= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:102027185:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00034
The Genome Aggregation Database (gnomAD) 0.00056
Trans-Omics for Precision Medicine (TOPMed) 0.00083
Exome Aggregation Consortium (ExAC) 0.00037
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00073
Links
ClinGen: CA7353122
dbSNP: rs149753029
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Feb 23, 2021 RCV000711542.5
Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 3, 2020 RCV001080528.3
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV000276047.2
Likely benign 1 criteria provided, single submitter May 24, 2017 RCV000720825.1
Likely benign 1 criteria provided, single submitter - RCV001173191.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DYNC1H1 - - GRCh38
GRCh37
1980 2019

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal, type 2O
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000385119.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Spinocerebellar Ataxia, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000385120.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Nov 03, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal, type 2O
Allele origin: germline
Invitae
Accession: SCV000651674.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Feb 23, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000536076.5
Submitted: (Sep 30, 2021)
Evidence details
Benign
(Aug 15, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841920.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336271.1
Submitted: (Apr 07, 2020)
Evidence details
Likely benign
(May 24, 2017)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000851709.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign

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 rs149753029...

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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 04, 2021