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NM_032122.5(DTNBP1):c.162G>A (p.Arg54=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Uncertain significance(2); Likely benign(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3
First in ClinVar:
Oct 5, 2015
Most recent Submission:
Mar 28, 2022
Last evaluated:
Feb 15, 2022
Accession:
VCV000210857.8
Variation ID:
210857
Description:
single nucleotide variant
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NM_032122.5(DTNBP1):c.162G>A (p.Arg54=)

Allele ID
207338
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p22.3
Genomic location
6: 15637804 (GRCh38) GRCh38 UCSC
6: 15638035 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_032122.5:c.162G>A MANE Select NP_115498.2:p.Arg54= synonymous
NM_001271667.2:c.-82G>A 5 prime UTR
NM_001271668.2:c.111G>A NP_001258597.1:p.Arg37= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:15637803:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (G)

Allele frequency
1000 Genomes Project 0.00060
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00069
The Genome Aggregation Database (gnomAD) 0.00077
Trans-Omics for Precision Medicine (TOPMed) 0.00063
Links
ClinGen: CA209841
dbSNP: rs77460377
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 8, 2021 RCV001852553.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 15, 2022 RCV000195186.7
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DTNBP1 - - GRCh38
GRCh37
182 215

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jun 25, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Affected status: unknown
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000247197.1
First in ClinVar: Oct 05, 2015
Last updated: Oct 05, 2015
Likely benign
(Feb 15, 2022)
criteria provided, single submitter
Method: clinical testing
not specified
Affected status: unknown
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002104021.1
First in ClinVar: Mar 12, 2022
Last updated: Mar 12, 2022
Comment:
Variant summary: DTNBP1 c.162G>A (p.Arg54Arg) alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a … (more)
Uncertain significance
(Dec 08, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV002278108.1
First in ClinVar: Mar 28, 2022
Last updated: Mar 28, 2022
Comment:
This sequence change affects codon 54 of the DTNBP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (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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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 rs77460377...

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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 Jun 24, 2022