NM_021830.5(TWNK):c.1430G>A (p.Arg477His) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Nov 13, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001172039.24

Allele description [Variation Report for NM_021830.5(TWNK):c.1430G>A (p.Arg477His)]

NM_021830.5(TWNK):c.1430G>A (p.Arg477His)

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.1430G>A (p.Arg477His)

HGVS:

NC_000010.11:g.100989830G>A
NG_011646.1:g.2686C>T
NG_012624.1:g.7295G>A
NM_001163812.2:c.1430G>A
NM_001163813.2:c.68G>A
NM_001163814.2:c.68G>A
NM_001368275.1:c.68G>A
NM_021830.4:c.1430G>A
NM_021830.5:c.1430G>AMANE SELECT
NP_001157284.1:p.Arg477His
NP_001157285.1:p.Arg23His
NP_001157286.1:p.Arg23His
NP_001355204.1:p.Arg23His
NP_068602.2:p.Arg477His
NC_000010.10:g.102749587G>A
NR_160738.1:n.2098G>A
NR_160739.1:n.258G>A
NR_160740.1:n.2036G>A
NR_160741.1:n.2036G>A
NR_160742.1:n.2036G>A

Protein change:

R23H

Links:

dbSNP: rs1364676852

NCBI 1000 Genomes Browser:

rs1364676852

Molecular consequence:

NM_001163812.2:c.1430G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001163813.2:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001163814.2:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001368275.1:c.68G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_021830.5:c.1430G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_160738.1:n.2098G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160739.1:n.258G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160740.1:n.2036G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160741.1:n.2036G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160742.1:n.2036G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001334969	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (May 1, 2020)	germline	clinical testing	Citation Link,
SCV005375589	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Nov 13, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001334969

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(May 1, 2020)

germline

clinical testing

Citation Link,

SCV005375589

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Nov 13, 2023)

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	yes	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001334969.25

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

From GeneDx, SCV005375589.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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