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NM_005138.3(SCO2):c.541G>A (p.Val181Ile) AND Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV001149867.4

Allele description [Variation Report for NM_005138.3(SCO2):c.541G>A (p.Val181Ile)]

NM_005138.3(SCO2):c.541G>A (p.Val181Ile)

Genes:
NCAPH2:non-SMC condensin II complex subunit H2 [Gene - OMIM - HGNC]
SCO2:synthesis of cytochrome C oxidase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_005138.3(SCO2):c.541G>A (p.Val181Ile)
HGVS:
  • NC_000022.11:g.50523871C>T
  • NG_011860.1:g.11215G>A
  • NG_016235.1:g.7569G>A
  • NG_021419.1:g.20656C>T
  • NM_001169109.2:c.541G>A
  • NM_001169110.1:c.541G>A
  • NM_001169111.2:c.541G>A
  • NM_001185011.2:c.*496C>T
  • NM_005138.3:c.541G>AMANE SELECT
  • NM_152299.4:c.*496C>TMANE SELECT
  • NP_001162580.1:p.Val181Ile
  • NP_001162581.1:p.Val181Ile
  • NP_001162582.1:p.Val181Ile
  • NP_005129.2:p.Val181Ile
  • LRG_727:g.11215G>A
  • NC_000022.10:g.50962300C>T
  • NC_000022.10:g.50962300C>T
  • NM_005138.2:c.541G>A
Protein change:
V181I
Links:
dbSNP: rs147624681
NCBI 1000 Genomes Browser:
rs147624681
Molecular consequence:
  • NM_001185011.2:c.*496C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152299.4:c.*496C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001169109.2:c.541G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001169110.1:c.541G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001169111.2:c.541G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005138.3:c.541G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (MC4DN2)
Synonyms:
CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
Identifiers:
MONDO: MONDO:0011451; MedGen: C5399977; Orphanet: 1561; OMIM: 604377

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001310865Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001310865.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024