NM_004544.4(NDUFA10):c.*1923_*1924insA AND Leigh syndrome

NM_004544.4(NDUFA10):c.1923_1924insA AND Leigh syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000260857.5

Allele description [Variation Report for NM_004544.4(NDUFA10):c.1923_1924insA]

NM_004544.4(NDUFA10):c.1923_1924insA

Gene:

NDUFA10:NADH:ubiquinone oxidoreductase subunit A10 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

2q37.3

Genomic location:

Preferred name:

NM_004544.4(NDUFA10):c.*1923_*1924insA

HGVS:

NC_000002.12:g.239959194_239959195insT
NG_031855.2:g.71208_71209insA
NM_001322020.2:c.*1928_*1929insA
NM_004544.4:c.*1923_*1924insAMANE SELECT
NC_000002.11:g.240898611_240898612insT
NM_004544.3:c.*1923_*1924insA
NR_136155.2:n.6074_6075insA
NR_136156.2:n.5965_5966insA
NR_136157.2:n.5905_5906insA

Links:

dbSNP: rs138899326

NCBI 1000 Genomes Browser:

rs138899326

Molecular consequence:

NM_001322020.2:c.*1928_*1929insA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_004544.4:c.*1923_*1924insA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NR_136155.2:n.6074_6075insA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_136156.2:n.5965_5966insA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_136157.2:n.5905_5906insA - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000428948	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000428948

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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 Illumina Laboratory Services, Illumina, SCV000428948.2

#	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: Mar 30, 2024

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