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NM_001918.4(DBT):c.753C>T (p.Asp251=)

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Interpretation:
Conflicting interpretations of pathogenicity​

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

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000094012.5
Variation ID:
94012
Description:
single nucleotide variant
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NM_001918.4(DBT):c.753C>T (p.Asp251=)

Allele ID
99914
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 100216002 (GRCh38) GRCh38 UCSC
1: 100681558 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100681558G>A
NC_000001.11:g.100216002G>A
NM_001918.4:c.753C>T NP_001909.3:p.Asp251= synonymous
NG_011852.2:g.38852C>T
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:100216001:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00124
The Genome Aggregation Database (gnomAD), exomes 0.00143
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00192
1000 Genomes Project 0.00120
Trans-Omics for Precision Medicine (TOPMed) 0.00195
Exome Aggregation Consortium (ExAC) 0.00133
Links
dbSNP: rs79292123
ClinGen: CA147535
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 Aug 1, 2017 RCV000079954.7
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 6, 2020 RCV000871289.4
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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
Likely benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: germline
Invitae
Accession: SCV001012915.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Aug 01, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000527582.4
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)
Benign
(Sep 18, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000111837.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001257844.1
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)

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 rs79292123...

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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 06, 2021