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NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met) AND Leigh syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 25, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001279573.1

Allele description [Variation Report for NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met)]

NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met)

Gene:
NDUFAF5:NADH:ubiquinone oxidoreductase complex assembly factor 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p12.1
Genomic location:
Preferred name:
NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met)
HGVS:
  • NC_000020.11:g.13801583C>T
  • NG_015811.1:g.21558C>T
  • NM_001039375.3:c.533C>T
  • NM_001352403.2:c.146C>T
  • NM_001352406.2:c.56C>T
  • NM_001352407.2:c.56C>T
  • NM_001352408.2:c.617C>T
  • NM_024120.5:c.617C>TMANE SELECT
  • NP_001034464.1:p.Thr178Met
  • NP_001339332.1:p.Thr49Met
  • NP_001339335.1:p.Thr19Met
  • NP_001339336.1:p.Thr19Met
  • NP_001339337.1:p.Thr206Met
  • NP_077025.2:p.Thr206Met
  • NC_000020.10:g.13782229C>T
  • NM_024120.4:c.617C>T
  • NR_029377.2:n.658C>T
  • NR_147978.2:n.658C>T
  • NR_147979.2:n.678C>T
  • NR_147980.2:n.554C>T
  • NR_147981.2:n.792C>T
  • NR_147982.2:n.792C>T
  • NR_147983.2:n.708C>T
Protein change:
T178M
Links:
dbSNP: rs141758325
NCBI 1000 Genomes Browser:
rs141758325
Molecular consequence:
  • NM_001039375.3:c.533C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352403.2:c.146C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352406.2:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352407.2:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352408.2:c.617C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024120.5:c.617C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_029377.2:n.658C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147978.2:n.658C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147979.2:n.678C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147980.2:n.554C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147981.2:n.792C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147982.2:n.792C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147983.2:n.708C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Leigh syndrome (LS)
Synonyms:
Leigh Disease; Subacute necrotizing encephalopathy; Necrotizing encephalopathy infantile subacute of Leigh; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009723; MedGen: C0023264; Orphanet: 506; OMIM: 256000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001466670Natera, Inc.
no assertion criteria provided
Uncertain significance
(May 25, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001466670.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023