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NM_001376.5(DYNC1H1):c.2719-6C>T

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 7, 2020
Accession:
VCV000210868.11
Variation ID:
210868
Description:
single nucleotide variant
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NM_001376.5(DYNC1H1):c.2719-6C>T

Allele ID
208055
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.31
Genomic location
14: 101988697 (GRCh38) GRCh38 UCSC
14: 102455034 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.102455034C>T
NC_000014.9:g.101988697C>T
NG_008777.1:g.29170C>T
NM_001376.5:c.2719-6C>T MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:101988696:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00061
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00108
The Genome Aggregation Database (gnomAD), exomes 0.00080
Trans-Omics for Precision Medicine (TOPMed) 0.00100
Exome Aggregation Consortium (ExAC) 0.00074
Links
ClinGen: CA206008
dbSNP: rs199763298
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts May 20, 2019 RCV000230438.10
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 7, 2020 RCV001084245.3
Likely benign 2 criteria provided, single submitter Jun 23, 2015 RCV000192880.3
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000317558.2
Likely benign 1 criteria provided, single submitter - RCV001174021.1
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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
1979 2018

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 23, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000247209.1
Submitted: (Sep 15, 2015)
Evidence details
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal, type 2O
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000385020.3
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 12, 2018)
criteria provided, single submitter
Method: clinical testing
Spinocerebellar Ataxia, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000385021.3
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)
Benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal, type 2O
Allele origin: germline
Invitae
Accession: SCV000287112.7
Submitted: (Jan 07, 2021)
Evidence details
Benign
(May 20, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001143807.1
Submitted: (Sep 25, 2019)
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: SCV001337141.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001751755.1
Submitted: (Jul 15, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001924349.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001927144.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001972059.1
Submitted: (Sep 21, 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 rs199763298...

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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 30, 2021