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NM_001005361.3(DNM2):c.386-6T>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 30, 2021)
Last evaluated:
Oct 26, 2020
Accession:
VCV000387548.6
Variation ID:
387548
Description:
single nucleotide variant
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NM_001005361.3(DNM2):c.386-6T>A

Allele ID
377223
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 10775697 (GRCh38) GRCh38 UCSC
19: 10886373 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001005360.2:c.386-6T>A
NC_000019.10:g.10775697T>A
NG_008792.1:g.62619T>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:10775696:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00118
Trans-Omics for Precision Medicine (TOPMed) 0.00125
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00123
1000 Genomes Project 0.00180
Links
ClinGen: CA9200793
dbSNP: rs114623441
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 May 7, 2019 RCV000711490.5
Benign 1 criteria provided, single submitter Oct 26, 2020 RCV001088132.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNM2 - - GRCh38
GRCh37
649 675

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 19, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841859.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Oct 26, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate B
Allele origin: germline
Invitae
Accession: SCV000563197.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(May 07, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000529624.3
Submitted: (Sep 30, 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 rs114623441...

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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 20, 2021