NM_004453.4(ETFDH):c.2T>C (p.Met1Thr) AND Glutaric acidemia IIc

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 25, 2012
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000012806.15

Allele description [Variation Report for NM_004453.4(ETFDH):c.2T>C (p.Met1Thr)]

NM_004453.4(ETFDH):c.2T>C (p.Met1Thr)

Gene:

ETFDH:electron transfer flavoprotein dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q32.1

Genomic location:

Preferred name:

NM_004453.4(ETFDH):c.2T>C (p.Met1Thr)

HGVS:

NC_000004.12:g.158672458T>C
NG_007078.2:g.5117T>C
NG_033150.1:g.4798A>G
NM_001281737.2:c.2T>C
NM_004453.4:c.2T>CMANE SELECT
NP_001268666.1:p.Met1Thr
NP_004444.2:p.Met1Thr
NC_000004.11:g.159593610T>C

Protein change:

M1T; MET1THR

Links:

OMIM: 231675.0001; dbSNP: rs121964953

NCBI 1000 Genomes Browser:

rs121964953

Molecular consequence:

NM_001281737.2:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_004453.4:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001281737.2:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004453.4:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Glutaric acidemia IIc
Synonyms:: ETFDH deficiency
Identifiers:: MONDO: MONDO:0700076; MedGen: C3278156

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033046	OMIM	no assertion criteria provided	Pathogenic (May 25, 2012)	germline	literature only	Beard, S. E., Spector, E. B., Seltzer, W. K., Frerman, F. E., Goodman, S. I. Mutations in electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) in glutaric acidemia type II (GA2). (Abstract) Clin. Res. 41: 271A, 1993.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033046

OMIM

no assertion criteria provided

Pathogenic
(May 25, 2012)

germline

literature only

Beard, S. E., Spector, E. B., Seltzer, W. K., Frerman, F. E., Goodman, S. I. Mutations in electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) in glutaric acidemia type II (GA2). (Abstract) Clin. Res. 41: 271A, 1993.

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Details of each submission

From OMIM, SCV000033046.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

Description

In a patient with type IIC glutaric acidemia, also known as multiple acyl-CoA dehydrogenase deficiency (231680), Beard et al. (1993) identified a T-to-C transition in the triplet encoding the initiator methionine of the ETFDH gene. The mutation resulted in total loss of enzyme activity and antigen.

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

Last Updated: Sep 29, 2024

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