NM_024996.7(GFM1):c.476A>G (p.Asn159Ser) AND Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Germline classification:: Benign (4 submissions)
Last evaluated:: Sep 1, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000999807.13

Allele description [Variation Report for NM_024996.7(GFM1):c.476A>G (p.Asn159Ser)]

NM_024996.7(GFM1):c.476A>G (p.Asn159Ser)

Gene:

GFM1:G elongation factor mitochondrial 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.32

Genomic location:

Preferred name:

NM_024996.7(GFM1):c.476A>G (p.Asn159Ser)

Other names:

p.N159S:AAT>AGT

HGVS:

NC_000003.12:g.158646851A>G
NG_008441.1:g.7324A>G
NM_001308164.2:c.476A>G
NM_001308166.2:c.476A>G
NM_001374355.1:c.476A>G
NM_001374356.1:c.476A>G
NM_001374357.1:c.251A>G
NM_001374358.1:c.234+1070A>G
NM_001374359.1:c.5+1070A>G
NM_001374360.1:c.5+1070A>G
NM_001374361.1:c.5+1070A>G
NM_024996.7:c.476A>GMANE SELECT
NP_001295093.1:p.Asn159Ser
NP_001295095.1:p.Asn159Ser
NP_001361284.1:p.Asn159Ser
NP_001361285.1:p.Asn159Ser
NP_001361286.1:p.Asn84Ser
NP_079272.4:p.Asn159Ser
NP_079272.4:p.Asn159Ser
NC_000003.11:g.158364640A>G
NM_001308164.1:c.476A>G
NM_024996.5:c.476A>G
NR_164499.1:n.584A>G
NR_164500.1:n.584A>G
NR_164502.1:n.584A>G

Protein change:

N159S

Links:

dbSNP: rs34297061

NCBI 1000 Genomes Browser:

rs34297061

Molecular consequence:

NM_001374358.1:c.234+1070A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001374359.1:c.5+1070A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001374360.1:c.5+1070A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001374361.1:c.5+1070A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001308164.2:c.476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001308166.2:c.476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374355.1:c.476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374356.1:c.476A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374357.1:c.251A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_024996.7:c.476A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_164499.1:n.584A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164500.1:n.584A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164502.1:n.584A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Synonyms:: HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE; Combined oxidative phosphorylation deficiency 1
Identifiers:: MONDO: MONDO:0012191; MedGen: C1836797; OMIM: 609060

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MeSH
Thelypteris lanceola (1)
MeSH
Monticalia novolanata (7)
Identical Protein Groups

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000441853	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Jan 12, 2018)	germline	clinical testing	Citation Link,
SCV000885507	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Benign (Apr 5, 2019)	germline	clinical testing	Citation Link,
SCV001456570	Natera, Inc.	no assertion criteria provided	Benign (Sep 16, 2020)	germline	clinical testing
SCV002795340	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Sep 1, 2021)	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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
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 Illumina Laboratory Services, Illumina, SCV000441853.3

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

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

#	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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885507.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV001456570.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV002795340.1

#	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: Sep 29, 2024

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