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NM_006567.5(FARS2):c.550G>A (p.Asp184Asn) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 23, 2020
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:
RCV002517211.2

Allele description [Variation Report for NM_006567.5(FARS2):c.550G>A (p.Asp184Asn)]

NM_006567.5(FARS2):c.550G>A (p.Asp184Asn)

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.550G>A (p.Asp184Asn)
Other names:
p.D184N:GAC>AAC
HGVS:
  • NC_000006.12:g.5369120G>A
  • NG_033003.2:g.112770G>A
  • NM_001318872.2:c.550G>A
  • NM_001374875.1:c.550G>A
  • NM_001374876.1:c.550G>A
  • NM_001374877.1:c.550G>A
  • NM_001374878.1:c.550G>A
  • NM_001374879.1:c.550G>A
  • NM_001375257.1:c.550G>A
  • NM_001375258.1:c.550G>A
  • NM_001375259.1:c.-84-35422G>A
  • NM_001375260.1:c.-340-27513G>A
  • NM_006567.5:c.550G>AMANE SELECT
  • NP_001305801.1:p.Asp184Asn
  • NP_001361804.1:p.Asp184Asn
  • NP_001361805.1:p.Asp184Asn
  • NP_001361806.1:p.Asp184Asn
  • NP_001361807.1:p.Asp184Asn
  • NP_001361808.1:p.Asp184Asn
  • NP_001362186.1:p.Asp184Asn
  • NP_001362187.1:p.Asp184Asn
  • NP_006558.1:p.Asp184Asn
  • NC_000006.11:g.5369353G>A
  • NM_006567.3:c.550G>A
  • NM_006567.4:c.550G>A
  • p.Asp184Asn
Protein change:
D184N
Links:
dbSNP: rs554931092
NCBI 1000 Genomes Browser:
rs554931092
Molecular consequence:
  • NM_001375259.1:c.-84-35422G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375260.1:c.-340-27513G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318872.2:c.550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374875.1:c.550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374876.1:c.550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374877.1:c.550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374878.1:c.550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374879.1:c.550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375257.1:c.550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375258.1:c.550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006567.5:c.550G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003683089Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 23, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003683089.2

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

Description

The c.550G>A (p.D184N) alteration is located in exon 2 (coding exon 1) of the FARS2 gene. This alteration results from a G to A substitution at nucleotide position 550, causing the aspartic acid (D) at amino acid position 184 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024