NM_004168.3(SDHA):c.-84dup AND Mitochondrial complex II deficiency, nuclear type 1

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:: RCV000399941.14

Allele description [Variation Report for NM_004168.3(SDHA):c.-84dup]

NM_004168.3(SDHA):c.-84dup

Gene:

SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

5p15.33

Genomic location:

Preferred name:

NM_004168.3(SDHA):c.-84dup

HGVS:

NC_000005.10:g.218272dup
NG_012339.1:g.5032dup
NG_033064.1:g.4916dup
NG_104118.1:g.43dup
NG_104118.2:g.242dup
NM_001294332.1:c.-84dup
NM_001330758.1:c.-84dup
NM_004168.3:c.-84dup
LRG_315:g.5032dup
NC_000005.9:g.218387dup
NM_004168.2:c.-84dupC

Links:

dbSNP: rs35805262

NCBI 1000 Genomes Browser:

rs35805262

Condition(s)

Name:: Mitochondrial complex II deficiency, nuclear type 1
Synonyms:: Mitochondrial complex II deficiency; Complex 2 mitochondrial respiratory chain deficiency; Succinate CoQ reductase deficiency
Identifiers:: MONDO: MONDO:0100294; MedGen: C5700310; Orphanet: 3208; OMIM: 252011

Recent activity

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Ustilaginoidea virens uncharacterized protein (UV8b_04809), partial mRNA
Ustilaginoidea virens uncharacterized protein (UV8b_04809), partial mRNA
gi|2083629561|ref|XM_043142307.1|

Nucleotide
Ustilaginoidea virens uncharacterized protein (UV8b_04764), partial mRNA
Ustilaginoidea virens uncharacterized protein (UV8b_04764), partial mRNA
gi|2083629376|ref|XM_043142262.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000456957	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

SCV000456957

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

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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, SCV000456957.2

#	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: Nov 3, 2024

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