NM_006567.5(FARS2):c.476A>C (p.His159Pro) AND Combined oxidative phosphorylation defect type 14

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 13, 2018
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:: RCV000714919.1

Allele description [Variation Report for NM_006567.5(FARS2):c.476A>C (p.His159Pro)]

NM_006567.5(FARS2):c.476A>C (p.His159Pro)

Genes:

LOC126859565:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:5368745-5369944 [Gene]
FARS2:phenylalanyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p25.1

Genomic location:

Preferred name:

NM_006567.5(FARS2):c.476A>C (p.His159Pro)

HGVS:

NC_000006.12:g.5369046A>C
NG_033003.2:g.112696A>C
NM_001318872.2:c.476A>C
NM_001374875.1:c.476A>C
NM_001374876.1:c.476A>C
NM_001374877.1:c.476A>C
NM_001374878.1:c.476A>C
NM_001374879.1:c.476A>C
NM_001375257.1:c.476A>C
NM_001375258.1:c.476A>C
NM_001375259.1:c.-84-35496A>C
NM_001375260.1:c.-340-27587A>C
NM_006567.5:c.476A>CMANE SELECT
NP_001305801.1:p.His159Pro
NP_001361804.1:p.His159Pro
NP_001361805.1:p.His159Pro
NP_001361806.1:p.His159Pro
NP_001361807.1:p.His159Pro
NP_001361808.1:p.His159Pro
NP_001362186.1:p.His159Pro
NP_001362187.1:p.His159Pro
NP_006558.1:p.His159Pro
NC_000006.11:g.5369279A>C
NM_006567.4:c.476A>C

Protein change:

H159P

Links:

dbSNP: rs1561990390

NCBI 1000 Genomes Browser:

rs1561990390

Molecular consequence:

NM_001375259.1:c.-84-35496A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001375260.1:c.-340-27587A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001318872.2:c.476A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374875.1:c.476A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374876.1:c.476A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374877.1:c.476A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374878.1:c.476A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374879.1:c.476A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375257.1:c.476A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375258.1:c.476A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006567.5:c.476A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Combined oxidative phosphorylation defect type 14
Synonyms:: Combined oxidative phosphorylation deficiency 14
Identifiers:: MONDO: MONDO:0013986; MedGen: C4755312; Orphanet: 319519; OMIM: 614946

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000845680	Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 13, 2018)	germline	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

SCV000845680

Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 13, 2018)

germline

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

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 Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000845680.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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