NM_006567.5(FARS2):c.506A>T (p.Asp169Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 19, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000200335.4

Allele description [Variation Report for NM_006567.5(FARS2):c.506A>T (p.Asp169Val)]

NM_006567.5(FARS2):c.506A>T (p.Asp169Val)

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.506A>T (p.Asp169Val)
Other names:
p.D169V:GAT>GTT
HGVS:
  • NC_000006.12:g.5369076A>T
  • NG_033003.1:g.112726A>T
  • NG_033003.2:g.112726A>T
  • NM_001318872.1:c.506A>T
  • NM_006567.5:c.506A>TMANE SELECT
  • NP_001305801.1:p.Asp169Val
  • NP_006558.1:p.Asp169Val
  • NC_000006.11:g.5369309A>T
  • NM_006567.3:c.506A>T
  • NM_006567.4:c.506A>T
Protein change:
D169V
Links:
dbSNP: rs146356199
NCBI 1000 Genomes Browser:
rs146356199
Molecular consequence:
  • NM_001318872.1:c.506A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006567.5:c.506A>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
SCV000251378GeneDxcriteria provided, single submitter
Uncertain significance
(Oct 19, 2015)
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, SCV000251378.14

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

Description

p.Asp169Val (GAT>GTT): c.506 A>T in exon 2 of the FARS2 gene (NM_006567.3). The D169V variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D169V variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).

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

Last Updated: Jun 6, 2021

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