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NM_001918.4(DBT):c.1281+6T>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 17, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000093990.7
Variation ID:
93990
Description:
single nucleotide variant
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NM_001918.4(DBT):c.1281+6T>G

Allele ID
99892
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 100206224 (GRCh38) GRCh38 UCSC
1: 100671780 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100671780A>C
NC_000001.11:g.100206224A>C
NG_011852.2:g.48630T>G
NM_001918.4:c.1281+6T>G
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:100206223:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.01737 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00460
1000 Genomes Project 0.01737
Exome Aggregation Consortium (ExAC) 0.01757
The Genome Aggregation Database (gnomAD), exomes 0.02362
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00123
Trans-Omics for Precision Medicine (TOPMed) 0.01124
Links
ClinGen: CA147528
dbSNP: rs140115881
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 Feb 11, 2016 RCV000224461.4
Benign 2 criteria provided, multiple submitters, no conflicts Dec 8, 2020 RCV000315422.5
Likely benign 1 criteria provided, single submitter Sep 4, 2013 RCV000079932.4
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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
451 464

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely Benign
(Feb 11, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000281281.1
Submitted: (May 19, 2016)
Evidence details
Comment:
Converted during submission to Likely benign.
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000346199.3
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)
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: germline
Invitae
Accession: SCV000627810.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001888715.1
Submitted: (Sep 17, 2021)
Evidence details
Likely benign
(Sep 04, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000111815.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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 rs140115881...

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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 29, 2021