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NM_001376.5(DYNC1H1):c.3015+18C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 30, 2021)
Last evaluated:
Dec 30, 2013
Accession:
VCV000137182.5
Variation ID:
137182
Description:
single nucleotide variant
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NM_001376.5(DYNC1H1):c.3015+18C>T

Allele ID
140885
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.31
Genomic location
14: 101991691 (GRCh38) GRCh38 UCSC
14: 102458028 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.102458028C>T
NC_000014.9:g.101991691C>T
NG_008777.1:g.32164C>T
NM_001376.5:c.3015+18C>T MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:101991690:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.13898 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.16762
Trans-Omics for Precision Medicine (TOPMed) 0.16200
1000 Genomes Project 0.13898
Trans-Omics for Precision Medicine (TOPMed) 0.15717
Links
ClinGen: CA290692
dbSNP: rs2749894
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 5 criteria provided, multiple submitters, no conflicts Dec 30, 2013 RCV000124852.5
Benign 1 criteria provided, single submitter - RCV001172903.1
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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
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307847.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Dec 30, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000168291.10
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
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001335978.1
Submitted: (Apr 07, 2020)
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: SCV001920536.1
Submitted: (Sep 23, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001955195.1
Submitted: (Sep 30, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
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: SCV001969394.1
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 rs2749894...

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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 27, 2021