NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Sep 12, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000200808.4

Allele description [Variation Report for NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)]

NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)

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.1082C>T (p.Pro361Leu)
Other names:
p.P361L:CCG>CTG
HGVS:
  • NC_000006.12:g.5613185C>T
  • NG_033003.1:g.356835C>T
  • NG_033003.2:g.356835C>T
  • NM_001318872.1:c.1082C>T
  • NM_006567.5:c.1082C>TMANE SELECT
  • NP_001305801.1:p.Pro361Leu
  • NP_006558.1:p.Pro361Leu
  • NC_000006.11:g.5613418C>T
  • NM_006567.3:c.1082C>T
  • NM_006567.4:c.1082C>T
Protein change:
P361L; PRO361LEU
Links:
OMIM: 611592.0008; dbSNP: rs751459058
NCBI 1000 Genomes Browser:
rs751459058
Molecular consequence:
  • NM_001318872.1:c.1082C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006567.5:c.1082C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000251375GeneDxcriteria provided, single submitter
Likely pathogenic
(Sep 12, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000251375.13

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The P361L variant in the FARS2 gene has been reported previously in the compound heterozygous state with another FARS2 variant in two unrelated individuals with clinical features associated with combined oxidative phosphorylation deficiency-14 (Vantroys et al., 2017). The P361L variant is observed in 15/34090 (0.044%) alleles from individuals of Latino background, and 37/276242 total alleles in large population cohorts (Lek et al., 2016). The P361L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret P361L as a likely pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 13, 2021

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