NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 28, 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:: RCV001105997.4

Allele description [Variation Report for NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)]

NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)

Gene:

TWNK:twinkle mtDNA helicase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.31

Genomic location:

Preferred name:

NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)

HGVS:

NC_000010.11:g.100990885T>C
NG_011646.1:g.1631A>G
NG_012624.1:g.8350T>C
NM_001163812.2:c.1609T>C
NM_001163813.2:c.247T>C
NM_001163814.2:c.247T>C
NM_001368275.1:c.247T>C
NM_021830.5:c.1609T>CMANE SELECT
NP_001157284.1:p.Tyr537His
NP_001157285.1:p.Tyr83His
NP_001157286.1:p.Tyr83His
NP_001355204.1:p.Tyr83His
NP_068602.2:p.Tyr537His
NC_000010.10:g.102750642T>C
NM_021830.4:c.1609T>C
NR_160738.1:n.2397T>C
NR_160739.1:n.557T>C
NR_160740.1:n.2215T>C
NR_160741.1:n.2215T>C
NR_160742.1:n.2335T>C

Protein change:

Y537H

Links:

dbSNP: rs144001072

NCBI 1000 Genomes Browser:

rs144001072

Molecular consequence:

NM_001163812.2:c.1609T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001163813.2:c.247T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001163814.2:c.247T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001368275.1:c.247T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_021830.5:c.1609T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_160738.1:n.2397T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160739.1:n.557T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160740.1:n.2215T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160741.1:n.2215T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160742.1:n.2335T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Synonyms:: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3
Identifiers:: MONDO: MONDO:0012241; MedGen: C1836439; OMIM: 609286

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001263021	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Apr 28, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001263021

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Apr 28, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.

Ronchi D, Fassone E, Bordoni A, Sciacco M, Lucchini V, Di Fonzo A, Rizzuti M, Colombo I, Napoli L, Ciscato P, Moggio M, Cosi A, Collotta M, Corti S, Bresolin N, Comi GP.

J Neurol Sci. 2011 Sep 15;308(1-2):173-6. doi: 10.1016/j.jns.2011.05.042.

PubMed [citation]

PMID:: 21689831
PMCID:: PMC3158327

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001263021.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

#	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: Apr 15, 2024

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