NM_006567.5(FARS2):c.1212T>A (p.His404Gln) AND Combined oxidative phosphorylation defect type 14

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 24, 2021
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:: RCV000817404.4

Allele description [Variation Report for NM_006567.5(FARS2):c.1212T>A (p.His404Gln)]

NM_006567.5(FARS2):c.1212T>A (p.His404Gln)

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.1212T>A (p.His404Gln)

HGVS:

NC_000006.12:g.5613315T>A
NG_033003.2:g.356965T>A
NM_001318872.2:c.1212T>A
NM_001374875.1:c.1212T>A
NM_001374876.1:c.1212T>A
NM_001374877.1:c.1212T>A
NM_001374878.1:c.1212T>A
NM_001374879.1:c.1212T>A
NM_001375257.1:c.1212T>A
NM_001375258.1:c.1080T>A
NM_001375259.1:c.516T>A
NM_001375260.1:c.516T>A
NM_006567.5:c.1212T>AMANE SELECT
NP_001305801.1:p.His404Gln
NP_001361804.1:p.His404Gln
NP_001361805.1:p.His404Gln
NP_001361806.1:p.His404Gln
NP_001361807.1:p.His404Gln
NP_001361808.1:p.His404Gln
NP_001362186.1:p.His404Gln
NP_001362187.1:p.His360Gln
NP_001362188.1:p.His172Gln
NP_001362189.1:p.His172Gln
NP_006558.1:p.His404Gln
NC_000006.11:g.5613548T>A
NM_006567.3:c.1212T>A

Protein change:

H172Q

Links:

dbSNP: rs1582585768

NCBI 1000 Genomes Browser:

rs1582585768

Molecular consequence:

NM_001318872.2:c.1212T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374875.1:c.1212T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374876.1:c.1212T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374877.1:c.1212T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374878.1:c.1212T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374879.1:c.1212T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375257.1:c.1212T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375258.1:c.1080T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375259.1:c.516T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375260.1:c.516T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006567.5:c.1212T>A - 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
SCV000957960	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 24, 2021)	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

SCV000957960

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 24, 2021)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000957960.2

#	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: Nov 19, 2022

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