U.S. flag

An official website of the United States government

NC_012920.1(MT-TN):m.5703G>A AND Mitochondrial complex IV deficiency, nuclear type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 2022
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:
RCV002247296.1

Allele description [Variation Report for NC_012920.1(MT-TN):m.5703G>A]

NC_012920.1(MT-TN):m.5703G>A

Gene:
MT-TN:mitochondrially encoded tRNA asparagine [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-TN):m.5703G>A
HGVS:
  • NC_012920.1:m.5703G>A
  • NC_012920.1:g.5703G>A
Nucleotide change:
5703G-A
Links:
OMIM: 590010.0001; dbSNP: rs199476130
NCBI 1000 Genomes Browser:
rs199476130

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002517716Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV002517716.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024