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NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2003
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000004886.6

Allele description [Variation Report for NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)]

NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)

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.1001G>A (p.Arg334Gln)
HGVS:
  • NC_000010.11:g.100989211G>A
  • NG_011646.1:g.3305C>T
  • NG_012624.1:g.6676G>A
  • NM_001163812.2:c.1001G>A
  • NM_001163813.2:c.-119-433G>A
  • NM_001163814.2:c.-119-433G>A
  • NM_001368275.1:c.-57-495G>A
  • NM_021830.5:c.1001G>AMANE SELECT
  • NP_001157284.1:p.Arg334Gln
  • NP_068602.2:p.Arg334Gln
  • NC_000010.10:g.102748968G>A
  • NM_021830.4:c.1001G>A
  • NR_160738.1:n.1669G>A
  • NR_160740.1:n.1669G>A
  • NR_160741.1:n.1669G>A
  • NR_160742.1:n.1669G>A
  • Q96RR1:p.Arg334Gln
Protein change:
R334Q; ARG334GLN
Links:
UniProtKB: Q96RR1#VAR_023651; OMIM: 606075.0008; dbSNP: rs28937887
NCBI 1000 Genomes Browser:
rs28937887
Molecular consequence:
  • NM_001163813.2:c.-119-433G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163814.2:c.-119-433G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368275.1:c.-57-495G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163812.2:c.1001G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021830.5:c.1001G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160738.1:n.1669G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160740.1:n.1669G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160741.1:n.1669G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160742.1:n.1669G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
Identifiers:
MedGen: C1868097

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000025062OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2003)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.

Van Goethem G, Löfgren A, Dermaut B, Ceuterick C, Martin JJ, Van Broeckhoven C.

Hum Mutat. 2003 Aug;22(2):175-6. No abstract available.

PubMed [citation]
PMID:
12872260

Details of each submission

From OMIM, SCV000025062.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a sporadic case of progressive external ophthalmoplegia (see 609286 and 157640), Van Goethem et al. (2003) identified heterozygosity for a 1031G-A transition in the C10ORF2 gene, resulting in an arg334-to-gln (R334Q) mutation, and heterozygosity for a gly884-to-ser mutation in the POLG gene (G884S; 174763.0006), indicating a digenic mode of inheritance. Clinical onset in the patient was at 52 years of age with blepharoptosis, depression, and levodopa-responsive Parkinson disease. Later she suffered from severe dysphagia leading to cachexia and necessitating enteric feeding. Sudden death, attributed to cardiac arrest, occurred at age 66 years.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024