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NM_001918.4(DBT):c.251+14dup

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 18, 2020
Accession:
VCV000093998.2
Variation ID:
93998
Description:
1bp duplication
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NM_001918.4(DBT):c.251+14dup

Allele ID
99900
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 100235416-100235417 (GRCh38) GRCh38 UCSC
1: 100700972-100700973 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100700978dup
NC_000001.11:g.100235422dup
NM_001918.4:c.251+14dup
NG_011852.2:g.19437dup
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:100235416:TTTTTT:TTTTTTT
Functional consequence
-
Global minor allele frequency (GMAF)
0.00339 (TTTTTTT)

Allele frequency
-
Links
ClinGen: CA147530
dbSNP: rs201469612
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 3 criteria provided, multiple submitters, no conflicts May 12, 2016 RCV000079940.5
Benign 1 criteria provided, single submitter Nov 18, 2020 RCV001518252.1
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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: SCV000308531.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(May 12, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000567837.4
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
(Nov 18, 2020)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: germline
Invitae
Accession: SCV001726913.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Oct 30, 2013)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000111823.3
Submitted: (May 06, 2014)
Evidence details
Publications
PubMed (1)

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
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Bean LJ Human mutation 2013 PMID: 23757202

Text-mined citations for rs201469612...

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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 23, 2021