NM_001918.5(DBT):c.1210-10dup AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Aug 21, 2021
Review status:: criteria provided, conflicting classifications

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000173751.8

Allele description [Variation Report for NM_001918.5(DBT):c.1210-10dup]

NM_001918.5(DBT):c.1210-10dup

Gene:

DBT:dihydrolipoamide branched chain transacylase E2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1p21.2

Genomic location:

Preferred name:

NM_001918.5(DBT):c.1210-10dup

HGVS:

NC_000001.11:g.100206323dup
NG_011852.2:g.48543dup
NM_001918.5:c.1210-10dupMANE SELECT
NC_000001.10:g.100671866_100671867insA
NC_000001.10:g.100671879dup
NM_001918.3:c.1210-10dupT

Links:

dbSNP: rs398123658

NCBI 1000 Genomes Browser:

rs398123658

Molecular consequence:

NM_001918.5:c.1210-10dup - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000224899	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions)	Uncertain significance (Feb 5, 2015)	germline	clinical testing	Citation Link,
SCV002098165	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Aug 21, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000224899

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions)

Uncertain significance
(Feb 5, 2015)

germline

clinical testing

Citation Link,

SCV002098165

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Aug 21, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000224899.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From GeneDx, SCV002098165.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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