NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu) AND Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 16, 2017
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:: RCV000578423.4

Allele description [Variation Report for NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu)]

NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu)

Gene:

ECHS1:enoyl-CoA hydratase, short chain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.3

Genomic location:

Preferred name:

NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu)

HGVS:

NC_000010.11:g.133362924T>C
NG_042077.1:g.15481A>G
NM_004092.4:c.817A>GMANE SELECT
NP_004083.3:p.Lys273Glu
NC_000010.10:g.135176428T>C
NM_004092.3:c.817A>G

Protein change:

K273E

Links:

dbSNP: rs565090080

NCBI 1000 Genomes Browser:

rs565090080

Molecular consequence:

NM_004092.4:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Synonyms:: PxMD-ECHS1
Identifiers:: MONDO: MONDO:0014563; MedGen: C4225391; Orphanet: 255241; OMIM: 616277

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000680199	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Nov 16, 2017)	maternal	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680199

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Nov 16, 2017)

maternal

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000680199.1

#	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	maternal	yes	1	blood	not provided		1	not provided	not provided	not provided

Last Updated: Apr 20, 2024

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