NM_001171155.2(PET100):c.3G>C (p.Met1Ile) AND Mitochondrial complex IV deficiency, nuclear type 1

Germline classification:: Pathogenic (1 submission)
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:: RCV000111466.5

Allele description [Variation Report for NM_001171155.2(PET100):c.3G>C (p.Met1Ile)]

NM_001171155.2(PET100):c.3G>C (p.Met1Ile)

Genes:

PET100:PET100 cytochrome c oxidase chaperone [Gene - OMIM - HGNC]
STXBP2:syntaxin binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_001171155.2(PET100):c.3G>C (p.Met1Ile)

HGVS:

NC_000019.10:g.7629836G>C
NG_034117.1:g.5052G>C
NM_001171155.2:c.3G>CMANE SELECT
NP_001164626.1:p.Met1Ile
NC_000019.9:g.7694722G>C
NM_001171155.1:c.3G>C
NR_033242.2:n.44G>C

Protein change:

M1I

Links:

OMIM: 614770.0001; dbSNP: rs587777839

NCBI 1000 Genomes Browser:

rs587777839

Molecular consequence:

NM_001171155.2:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001171155.2:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_033242.2:n.44G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001244731	Kids Research, The Children's Hospital at Westmead	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	inherited	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 32313153

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001244731

Kids Research, The Children's Hospital at Westmead

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

inherited

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.

Riley LG, Cowley MJ, Gayevskiy V, Minoche AE, Puttick C, Thorburn DR, Rius R, Compton AG, Menezes MJ, Bhattacharya K, Coman D, Ellaway C, Alexander IE, Adams L, Kava M, Robinson J, Sue CM, Balasubramaniam S, Christodoulou J.

Genet Med. 2020 Jul;22(7):1254-1261. doi: 10.1038/s41436-020-0793-6. Epub 2020 Apr 21.

PubMed [citation]

PMID:: 32313153

Details of each submission

From Kids Research, The Children's Hospital at Westmead, SCV001244731.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

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

Last Updated: Apr 15, 2024

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