NC_012920.1(MT-CYB):m.4296G>A AND MERRF syndrome

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:: RCV002249542.1

Allele description [Variation Report for NC_012920.1(MT-CYB):m.4296G>A]

NC_012920.1(MT-CYB):m.4296G>A

Gene:

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

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-CYB):m.4296G>A

HGVS:

NC_012920.1:m.4296G>A
NC_012920.1:g.4296G>A

Links:

dbSNP: rs1603219393

NCBI 1000 Genomes Browser:

rs1603219393

Condition(s)

Name:: MERRF syndrome (MERRF)
Synonyms:: Myoclonus with epilepsy with ragged red fibers; Myoclonic epilepsy associated with ragged-red fibers; Fukuhara syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010790; MedGen: C0162672; Orphanet: 551; OMIM: 545000

Recent activity

Clear Turn Off Turn On

RecName: Full=Probable E3 ubiquitin-protein ligase MID2; AltName: Full=Midin-2; ...
RecName: Full=Probable E3 ubiquitin-protein ligase MID2; AltName: Full=Midin-2; AltName: Full=Midline defect 2; AltName: Full=Midline-2; AltName: Full=RING finger protein 60; AltName: Full=RING-type E3 ubiquitin transferase MID2; AltName: Full=Tripartite motif-containing protein 1
gi|294862489|sp|Q9UJV3.3|TRIM1_HUMA

Protein
Attheya septentrionalis strain RCC2042 28S ribosomal RNA gene, partial sequence
Attheya septentrionalis strain RCC2042 28S ribosomal RNA gene, partial sequence
gi|433354571|gb|JQ995433.1|

Nucleotide
RecName: Full=Speckle-type POZ protein; AltName: Full=HIB homolog 1; AltName: Fu...
RecName: Full=Speckle-type POZ protein; AltName: Full=HIB homolog 1; AltName: Full=Roadkill homolog 1
gi|8134708|sp|O43791.1|SPOP_HUMAN

Protein
neuroglobin [Canis lupus familiaris]
neuroglobin [Canis lupus familiaris]
gi|78486592|ref|NP_001003356.2|

Protein
Porcine parvovirus 7 isolate 42 NS1 (REP) and capsid (CP) genes, complete cds
Porcine parvovirus 7 isolate 42 NS1 (REP) and capsid (CP) genes, complete cds
gi|1009327598|gb|KU563733.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002517698	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

SCV002517698

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, SCV002517698.1

#	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 11, 2022

ClinVar

Relating variation to medicine