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NM_001376.5(DYNC1H1):c.9264-8T>G

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 3, 2020
Accession:
VCV000286522.6
Variation ID:
286522
Description:
single nucleotide variant
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NM_001376.5(DYNC1H1):c.9264-8T>G

Allele ID
270759
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.31
Genomic location
14: 102027929 (GRCh38) GRCh38 UCSC
14: 102494266 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.102494266T>G
NC_000014.9:g.102027929T>G
NG_008777.1:g.68402T>G
NM_001376.5:c.9264-8T>G MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:102027928:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00033
The Genome Aggregation Database (gnomAD) 0.00131
1000 Genomes Project 0.00100
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00131
Exome Aggregation Consortium (ExAC) 0.00033
Trans-Omics for Precision Medicine (TOPMed) 0.00111
Links
ClinGen: CA7353204
dbSNP: rs368432468
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 Mar 18, 2016 RCV000383732.3
Benign 1 criteria provided, single submitter Nov 3, 2020 RCV000462081.6
Uncertain significance 1 criteria provided, single submitter Mar 13, 2020 RCV001285840.2
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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
(Jun 18, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000512903.4
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)
Likely benign
(Mar 18, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000339986.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Nov 03, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal, type 2O
Allele origin: germline
Invitae
Accession: SCV000559783.6
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Mar 13, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001472341.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The DYNC1H1 c.9264-8T>G variant (rs368432468), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 286522). This variant … (more)

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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DYNC1H1 - - - -

Text-mined citations for rs368432468...

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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