NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr) AND Ethylmalonic encephalopathy

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: May 24, 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:: RCV000503577.16

Allele description [Variation Report for NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr)]

NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr)

Gene:

ETHE1:ETHE1 persulfide dioxygenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.31

Genomic location:

Preferred name:

NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr)

HGVS:

NC_000019.10:g.43511460C>T
NG_008141.1:g.20785G>A
NM_001320867.2:c.449G>A
NM_001320868.2:c.113G>A
NM_001320869.2:c.188G>A
NM_014297.5:c.482G>AMANE SELECT
NP_001307796.1:p.Cys150Tyr
NP_001307797.1:p.Cys38Tyr
NP_001307798.1:p.Cys63Tyr
NP_055112.2:p.Cys161Tyr
NP_055112.2:p.Cys161Tyr
NC_000019.9:g.44015612C>T
NM_014297.3:c.482G>A

Protein change:

C150Y

Links:

dbSNP: rs1555762722

NCBI 1000 Genomes Browser:

rs1555762722

Molecular consequence:

NM_001320867.2:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001320868.2:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001320869.2:c.188G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014297.5:c.482G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ethylmalonic encephalopathy (EE)
Synonyms:: EPEMA syndrome; Encephalopathy, petechiae, and ethylmalonic aciduria; Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
Identifiers:: MONDO: MONDO:0011229; MedGen: C1865349; Orphanet: 51188; OMIM: 602473

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000594599	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 24, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000607224	GenomeConnect, ClinGen	no classification provided	not provided	unknown	phenotyping only
SCV000710829	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000594599

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 24, 2017)

germline

clinical testing

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

SCV000607224

GenomeConnect, ClinGen

no classification provided

not provided

unknown

phenotyping only

SCV000710829

GeneReviews

no classification provided

not provided

germline

literature only

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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	phenotyping only

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

Ethylmalonic Encephalopathy.

Di Meo I, Lamperti C, Tiranti V.

2017 Sep 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 28933811

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000594599.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GenomeConnect, ClinGen, SCV000607224.1

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

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

From GeneReviews, SCV000710829.2

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

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

Last Updated: May 1, 2024

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