NM_001918.4(DBT):c.327C>T (p.Thr109=) AND not provided

Clinical significance:Likely benign (Last evaluated: May 1, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000756009.4

Allele description [Variation Report for NM_001918.4(DBT):c.327C>T (p.Thr109=)]

NM_001918.4(DBT):c.327C>T (p.Thr109=)

Gene:
DBT:dihydrolipoamide branched chain transacylase E2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p21.2
Genomic location:
Preferred name:
NM_001918.4(DBT):c.327C>T (p.Thr109=)
HGVS:
  • NC_000001.11:g.100230839G>A
  • NG_011852.2:g.24015C>T
  • NM_001918.4:c.327C>T
  • NP_001909.3:p.Thr109=
  • NC_000001.10:g.100696395G>A
  • NM_001918.2:c.327C>T
  • NM_001918.3:c.327C>T
  • p.Thr109Thr
Links:
dbSNP: rs138796800
NCBI 1000 Genomes Browser:
rs138796800
Molecular consequence:
  • NM_001918.4:c.327C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000883705ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Apr 20, 2018)
germlineclinical testing

Citation Link,

SCV001745935CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(May 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000883705.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.327C>T; p.Thr109Thr variant (rs138796800, ClinVar variant ID 210824) does not alter the amino acid sequence of the DBT protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with mitochondrial disease in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with a South Asian population frequency of 0.2% (identified on 56 out of 30,774 chromosomes, including one homozygote). Based on the available information, the c.327C>T variant is likely to be benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001745935.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 13, 2021

Support Center