NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) AND Inborn genetic diseases

Clinical significance:Uncertain significance (Last evaluated: Sep 25, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000622524.1

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]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742958Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Sep 25, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000742958.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jul 13, 2021

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