m.4269A>G AND Mitochondrial disease

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:: RCV002247291.1

Allele description [Variation Report for m.4269A>G]

m.4269A>G

Gene:

MT-TI:mitochondrially encoded tRNA isoleucine [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

m.4269A>G

HGVS:

NC_012920.1:m.4269A>G
NC_012920.1:g.4269A>G

Nucleotide change:

4269A-G

Links:

OMIM: 590045.0002; dbSNP: rs121434466

NCBI 1000 Genomes Browser:

rs121434466

Condition(s)

Name:: Mitochondrial disease
Synonyms:: Mitochondrial diseases; Mitochondrial disorder
Identifiers:: MONDO: MONDO:0044970; MeSH: D028361; MedGen: C0751651; Orphanet: 68380

Recent activity

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Ptilota gunneri photosystem I 700 apoprotein A1 (psaA) gene, partial cds; plasti...
Ptilota gunneri photosystem I 700 apoprotein A1 (psaA) gene, partial cds; plastid
gi|114152544|gb|DQ787613.1|

Nucleotide
Phycodrys rubens photosystem I 700 apoprotein A1 (psaA) gene, partial cds; plast...
Phycodrys rubens photosystem I 700 apoprotein A1 (psaA) gene, partial cds; plastid
gi|114152562|gb|DQ787622.1|

Nucleotide
berberine bridge enzyme-like 18 [Solanum pennellii]
berberine bridge enzyme-like 18 [Solanum pennellii]
gi|970034929|ref|XP_015078794.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002517695	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002517695

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

germline

clinical testing

Citation Link

Help

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 Mendelics, SCV002517695.1

#	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: Dec 9, 2023

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