NM_004453.4(ETFDH):c.92delinsTA (p.Thr31fs) AND Multiple acyl-CoA dehydrogenase deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 29, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003476392.1

Allele description [Variation Report for NM_004453.4(ETFDH):c.92delinsTA (p.Thr31fs)]

NM_004453.4(ETFDH):c.92delinsTA (p.Thr31fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

4q32.1

Genomic location:

Preferred name:

NM_004453.4(ETFDH):c.92delinsTA (p.Thr31fs)

HGVS:

NC_000004.12:g.158680524delinsTA
NG_007078.2:g.13183delinsTA
NM_001281737.2:c.35-1671delinsTA
NM_004453.4:c.92delinsTAMANE SELECT
NP_004444.2:p.Thr31fs
NC_000004.11:g.159601676delinsTA

Protein change:

T31fs

Molecular consequence:

NM_004453.4:c.92delinsTA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281737.2:c.35-1671delinsTA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Multiple acyl-CoA dehydrogenase deficiency (MADD)
Synonyms:: GA II; Ethylmalonic-adipicaciduria; Glutaric aciduria, type 2; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009282; MedGen: C0268596; Orphanet: 26791; OMIM: 231680

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004194869	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 29, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004194869

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 29, 2022)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004194869.1

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

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

Last Updated: Dec 30, 2023

ClinVar

Relating variation to medicine