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NM_001376.5(DYNC1H1):c.13219-9C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 25, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000312663.9
Variation ID:
312663
Description:
single nucleotide variant
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NM_001376.5(DYNC1H1):c.13219-9C>T

Allele ID
320180
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.31
Genomic location
14: 102048507 (GRCh38) GRCh38 UCSC
14: 102514844 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.102514844C>T
NC_000014.9:g.102048507C>T
NG_008777.1:g.88980C>T
NM_001376.5:c.13219-9C>T MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:102048506:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00280 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00091
Trans-Omics for Precision Medicine (TOPMed) 0.00364
The Genome Aggregation Database (gnomAD), exomes 0.00075
1000 Genomes Project 0.00280
Trans-Omics for Precision Medicine (TOPMed) 0.00323
The Genome Aggregation Database (gnomAD) 0.00309
The Genome Aggregation Database (gnomAD) 0.00332
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00446
Links
ClinGen: CA7354184
dbSNP: rs17541650
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 Jun 18, 2020 RCV000428664.5
Benign 2 criteria provided, multiple submitters, no conflicts Dec 2, 2020 RCV000461232.7
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000379034.2
Benign 1 criteria provided, single submitter - RCV001173230.1
Benign 1 criteria provided, single submitter May 3, 2018 RCV001705466.1
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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
(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: SCV000385206.3
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
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Spinocerebellar Ataxia, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000385208.3
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
(Oct 20, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000594432.1
Submitted: (Jul 05, 2017)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336311.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(Jun 18, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001477213.1
Submitted: (Dec 30, 2020)
Evidence details
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal, type 2O
Allele origin: germline
Invitae
Accession: SCV000559803.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(May 03, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000527287.3
Submitted: (Sep 25, 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 rs17541650...

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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