NM_021830.5(TWNK):c.1229T>G (p.Leu410Arg) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 17, 2012
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:: RCV000196072.1

Allele description [Variation Report for NM_021830.5(TWNK):c.1229T>G (p.Leu410Arg)]

NM_021830.5(TWNK):c.1229T>G (p.Leu410Arg)

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.1229T>G (p.Leu410Arg)

Other names:

p.L410R:CTG>CGG

HGVS:

NC_000010.11:g.100989439T>G
NG_011646.1:g.3077A>C
NG_012624.1:g.6904T>G
NM_001163812.2:c.1229T>G
NM_001163813.2:c.-119-205T>G
NM_001163814.2:c.-119-205T>G
NM_001368275.1:c.-57-267T>G
NM_021830.5:c.1229T>GMANE SELECT
NP_001157284.1:p.Leu410Arg
NP_068602.2:p.Leu410Arg
NC_000010.10:g.102749196T>G
NM_021830.4:c.1229T>G
NR_160738.1:n.1897T>G
NR_160740.1:n.1897T>G
NR_160741.1:n.1897T>G
NR_160742.1:n.1897T>G

Protein change:

L410R

Links:

dbSNP: rs749345054

NCBI 1000 Genomes Browser:

rs749345054

Molecular consequence:

NM_001163813.2:c.-119-205T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001163814.2:c.-119-205T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001368275.1:c.-57-267T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001163812.2:c.1229T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_021830.5:c.1229T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_160738.1:n.1897T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160740.1:n.1897T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160741.1:n.1897T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160742.1:n.1897T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000251221	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Jul 17, 2012)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000251221

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Jul 17, 2012)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000251221.11

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

Description

p.Leu410Arg (CTG>CGG): c.1229 T>G in exon 1 of the C10ORF2 gene (NM_021830.4). The L410R missense change likely associated with a mitochondrial disorder was identified in the C10ORF2 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative in that an uncharged Leucine residue is replaced by a positively charged Arginine residue. This change occurs at a highly conserved position in the C10ORF2 protein and multiple in-silico analysis programs predict that L410R is damaging to the C10ORF2 protein. Therefore, L410R is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s).

#	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: Apr 23, 2022

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