NM_001985.2(ETFB):c.58-212A>C AND Glutaric aciduria, type 2

Clinical significance:Benign/Likely benign (Last evaluated: May 22, 2017)

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:
RCV000625041.2

Allele description [Variation Report for NM_001985.2(ETFB):c.58-212A>C]

NM_001985.2(ETFB):c.58-212A>C

Gene:
ETFB:electron transfer flavoprotein subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.41
Genomic location:
Preferred name:
NM_001985.2(ETFB):c.58-212A>C
Other names:
p.E40A:GAA>GCA
HGVS:
  • NC_000019.10:g.51354520T>G
  • NG_007115.1:g.16899A>C
  • NM_001014763.1:c.119A>C
  • NM_001985.2:c.58-212A>C
  • NP_001014763.1:p.Glu40Ala
  • NC_000019.9:g.51857774T>G
Protein change:
E40A
Links:
dbSNP: rs143144671
NCBI 1000 Genomes Browser:
rs143144671
Molecular consequence:
  • NM_001985.2:c.58-212A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001014763.1:c.119A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Glutaric aciduria, type 2 (MADD)
Synonyms:
GA II; GLUTARIC ACIDURIA II; Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Identifiers:
MedGen: C0268596; Orphanet: 26791; OMIM: 231680

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000743599Genome Diagnostics Laboratory,University Medical Center Utrecht - VKGL Data-share Consensuscriteria provided, single submitter
Benign
(Oct 9, 2014)
germlineclinical testing

Citation Link,

SCV000744914DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center - VKGL Data-share Consensuscriteria provided, single submitter
Likely benign
(May 22, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genome Diagnostics Laboratory,University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743599.1

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

From DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center - VKGL Data-share Consensus, SCV000744914.1

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

Last Updated: Mar 30, 2019

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