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NM_001918.4(DBT):c.1150= (p.Gly384=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 18, 2021)
Last evaluated:
Jul 30, 2021
Accession:
VCV000128885.8
Variation ID:
128885
Description:
single nucleotide variant
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NM_001918.4(DBT):c.1150= (p.Gly384=)

Allele ID
134332
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 100206504 (GRCh38) GRCh38 UCSC
1: 100672060 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100672060T>C
NC_000001.11:g.100206504T>C
NG_011852.2:g.48350=
NM_001918.4:c.1150= NP_001909.3:p.Gly384=
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:100206503:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.10823 (T)

Allele frequency
1000 Genomes Project 0.89177
Trans-Omics for Precision Medicine (TOPMed) 0.87103
The Genome Aggregation Database (gnomAD) 0.88265
Exome Aggregation Consortium (ExAC) 0.91377
The Genome Aggregation Database (gnomAD), exomes 0.91743
Links
ClinGen: CA152551
dbSNP: rs12021720
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Jul 30, 2021 RCV001000210.4
Benign 3 criteria provided, single submitter Aug 24, 2015 RCV000116865.9
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001675620.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DBT - - GRCh38
GRCh37
444 457

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Aug 25, 2020)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001156718.2
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Nov 26, 2020)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: germline
Invitae
Accession: SCV001733022.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 30, 2021)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001876538.1
Submitted: (Sep 11, 2021)
Evidence details
Benign
(Aug 24, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000202597.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001895110.1
Submitted: (Sep 18, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 29306928, 14517957, 26232051, 27884173, 9621512, 20981092)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000150939.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001743361.3
Submitted: (Sep 02, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DBT - - - -

Text-mined citations for rs12021720...

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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 Sep 18, 2021