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NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000377816.11
Variation ID:
377816
Description:
single nucleotide variant
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NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)

Allele ID
373596
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.31
Genomic location
14: 101985812 (GRCh38) GRCh38 UCSC
14: 102452149 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.102452149C>T
NC_000014.9:g.101985812C>T
NG_008777.1:g.26285C>T
NM_001376.5:c.1587C>T MANE Select NP_001367.2:p.Asn529= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:101985811:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00319 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00109
Trans-Omics for Precision Medicine (TOPMed) 0.00291
1000 Genomes Project 0.00319
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00392
The Genome Aggregation Database (gnomAD), exomes 0.00072
The Genome Aggregation Database (gnomAD) 0.00290
Links
ClinGen: CA7351721
dbSNP: rs138418906
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 Dec 4, 2020 RCV001081727.3
Benign 1 criteria provided, single submitter Mar 14, 2016 RCV000438547.1
Benign 1 criteria provided, single submitter May 15, 2016 RCV000715773.1
Benign 1 criteria provided, single submitter Oct 25, 2017 RCV000711527.4
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001110993.1
Benign 1 criteria provided, single submitter - RCV001172900.1
Benign 1 criteria provided, single submitter Mar 13, 2020 RCV001289674.2
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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
1979 2018

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 14, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000512893.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Oct 25, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841905.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(May 15, 2016)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000846604.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal, type 2O
Allele origin: germline
Invitae
Accession: SCV000559806.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Spinocerebellar Ataxia, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001268493.1
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)
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: SCV001270713.1
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)
Benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001335975.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(Mar 13, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001477640.1
Submitted: (Dec 11, 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.

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 rs138418906...

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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 Nov 11, 2021