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NM_001918.4(DBT):c.1281+31T>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 10, 2021)
Last evaluated:
Jun 23, 2018
Accession:
VCV000093989.2
Variation ID:
93989
Description:
single nucleotide variant
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NM_001918.4(DBT):c.1281+31T>G

Allele ID
99891
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 100206199 (GRCh38) GRCh38 UCSC
1: 100671755 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100671755A>C
NC_000001.11:g.100206199A>C
NM_001918.4:c.1281+31T>G
NG_011852.2:g.48655T>G
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:100206198:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.01498 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.03166
The Genome Aggregation Database (gnomAD) 0.02706
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.03529
Exome Aggregation Consortium (ExAC) 0.03137
1000 Genomes Project 0.01498
Trans-Omics for Precision Medicine (TOPMed) 0.02896
Links
ClinGen: CA147527
dbSNP: rs115696850
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 23, 2013 RCV000079931.6
Likely benign 1 criteria provided, single submitter Jun 23, 2018 RCV001555184.1
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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
436 449

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000308530.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Aug 23, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000111814.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jun 23, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001776556.1
Submitted: (Aug 10, 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 rs115696850...

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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 Aug 17, 2021