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NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg) AND Mitochondrial complex IV deficiency, nuclear type 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:
RCV001136866.12

Allele description [Variation Report for NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg)]

NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg)

Gene:
FASTKD2:FAST kinase domains 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q33.3
Genomic location:
Preferred name:
NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg)
HGVS:
  • NC_000002.12:g.206766842A>G
  • NG_008984.1:g.6455A>G
  • NM_001136193.2:c.149A>GMANE SELECT
  • NM_001136194.2:c.149A>G
  • NM_014929.4:c.149A>G
  • NP_001129665.1:p.Lys50Arg
  • NP_001129666.1:p.Lys50Arg
  • NP_055744.2:p.Lys50Arg
  • NP_055744.2:p.Lys50Arg
  • NC_000002.11:g.207631566A>G
  • NM_014929.3:c.149A>G
Protein change:
K50R
Links:
dbSNP: rs141447598
NCBI 1000 Genomes Browser:
rs141447598
Molecular consequence:
  • NM_001136193.2:c.149A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136194.2:c.149A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014929.4:c.149A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial complex IV deficiency, nuclear type 1
Synonyms:
Mitochondrial complex IV deficiency; Complex 4 mitochondrial respiratory chain deficiency; Deficiency of mitochondrial respiratory chain complex4; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0700250; MedGen: C5435656; OMIM: 220110

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001296740Illumina Laboratory Services, Illumina
criteria provided, single submitter

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

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Exome sequencing in undiagnosed inherited and sporadic ataxias.

Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF.

Brain. 2015 Feb;138(Pt 2):276-83. doi: 10.1093/brain/awu348. Epub 2014 Dec 12.

PubMed [citation]
PMID:
25497598
PMCID:
PMC4306819

Evaluation of exome sequencing variation in undiagnosed ataxias.

Sandford E, Li JZ, Burmeister M.

Brain. 2015 Oct;138(Pt 10):e383. doi: 10.1093/brain/awv087. Epub 2015 Apr 4. No abstract available.

PubMed [citation]
PMID:
25842391
PMCID:
PMC4671475

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001296740.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant 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: Nov 3, 2024