NM_024120.5(NDUFAF5):c.667A>C (p.Asn223His) AND Leigh syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 28, 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:: RCV001279574.1

Allele description [Variation Report for NM_024120.5(NDUFAF5):c.667A>C (p.Asn223His)]

NM_024120.5(NDUFAF5):c.667A>C (p.Asn223His)

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.667A>C (p.Asn223His)

HGVS:

NC_000020.11:g.13801633A>C
NG_015811.1:g.21608A>C
NM_001039375.3:c.583A>C
NM_001352403.2:c.196A>C
NM_001352406.2:c.106A>C
NM_001352407.2:c.106A>C
NM_001352408.2:c.667A>C
NM_024120.5:c.667A>CMANE SELECT
NP_001034464.1:p.Asn195His
NP_001339332.1:p.Asn66His
NP_001339335.1:p.Asn36His
NP_001339336.1:p.Asn36His
NP_001339337.1:p.Asn223His
NP_077025.2:p.Asn223His
NC_000020.10:g.13782279A>C
NM_024120.4:c.667A>C
NR_029377.2:n.708A>C
NR_147978.2:n.708A>C
NR_147979.2:n.728A>C
NR_147980.2:n.604A>C
NR_147981.2:n.842A>C
NR_147982.2:n.842A>C
NR_147983.2:n.758A>C

Protein change:

N195H

Links:

dbSNP: rs199543540

NCBI 1000 Genomes Browser:

rs199543540

Molecular consequence:

NM_001039375.3:c.583A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352403.2:c.196A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352406.2:c.106A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352407.2:c.106A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352408.2:c.667A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_024120.5:c.667A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_029377.2:n.708A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147978.2:n.708A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147979.2:n.728A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147980.2:n.604A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147981.2:n.842A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147982.2:n.842A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147983.2:n.758A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Leigh syndrome (NULS)
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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001466671	Natera, Inc.	no assertion criteria provided	Uncertain significance (Sep 28, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001466671

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Sep 28, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV001466671.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine