NM_021830.5(TWNK):c.1172G>A (p.Arg391His) AND Infantile onset spinocerebellar ataxia

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 27, 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:: RCV000290037.5

Allele description [Variation Report for NM_021830.5(TWNK):c.1172G>A (p.Arg391His)]

NM_021830.5(TWNK):c.1172G>A (p.Arg391His)

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.1172G>A (p.Arg391His)

HGVS:

NC_000010.11:g.100989382G>A
NG_011646.1:g.3134C>T
NG_012624.1:g.6847G>A
NM_001163812.2:c.1172G>A
NM_001163813.2:c.-119-262G>A
NM_001163814.2:c.-119-262G>A
NM_001368275.1:c.-57-324G>A
NM_021830.5:c.1172G>AMANE SELECT
NP_001157284.1:p.Arg391His
NP_068602.2:p.Arg391His
NC_000010.10:g.102749139G>A
NM_021830.4:c.1172G>A
NR_160738.1:n.1840G>A
NR_160740.1:n.1840G>A
NR_160741.1:n.1840G>A
NR_160742.1:n.1840G>A
Q96RR1:p.Arg391His

Protein change:

R391H; ARG391HIS

Links:

UniProtKB: Q96RR1#VAR_072657; OMIM: 606075.0016; dbSNP: rs556445621

NCBI 1000 Genomes Browser:

rs556445621

Molecular consequence:

NM_001163813.2:c.-119-262G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001163814.2:c.-119-262G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001368275.1:c.-57-324G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001163812.2:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_021830.5:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_160738.1:n.1840G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160740.1:n.1840G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160741.1:n.1840G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160742.1:n.1840G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Infantile onset spinocerebellar ataxia (MTDPS7)
Synonyms:: Ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis; Spinocerebellar ataxia 8 (formerly); SCA8 (formerly); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010060; MedGen: C1849096; Orphanet: 1186; OMIM: 271245

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000359911	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 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

SCV000359911

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 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

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.

Morino H, Pierce SB, Matsuda Y, Walsh T, Ohsawa R, Newby M, Hiraki-Kamon K, Kuramochi M, Lee MK, Klevit RE, Martin A, Maruyama H, King MC, Kawakami H.

Neurology. 2014 Nov 25;83(22):2054-61. doi: 10.1212/WNL.0000000000001036. Epub 2014 Oct 29.

PubMed [citation]

PMID:: 25355836
PMCID:: PMC4248451

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000359911.3

#	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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely 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: Sep 29, 2024

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