NM_021830.5(TWNK):c.338G>C (p.Cys113Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 5, 2016
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:: RCV000195756.2

Allele description [Variation Report for NM_021830.5(TWNK):c.338G>C (p.Cys113Ser)]

NM_021830.5(TWNK):c.338G>C (p.Cys113Ser)

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.338G>C (p.Cys113Ser)

Other names:

p.C113S:TGC>TCC

HGVS:

NC_000010.11:g.100988548G>C
NG_011646.1:g.3968C>G
NG_012624.1:g.6013G>C
NM_001163812.2:c.338G>C
NM_001163813.2:c.-120+935G>C
NM_001163814.2:c.-120+935G>C
NM_001368275.1:c.-58+935G>C
NM_021830.5:c.338G>CMANE SELECT
NP_001157284.1:p.Cys113Ser
NP_068602.2:p.Cys113Ser
NC_000010.10:g.102748305G>C
NM_021830.4:c.338G>C
NR_160738.1:n.1006G>C
NR_160740.1:n.1006G>C
NR_160741.1:n.1006G>C
NR_160742.1:n.1006G>C

Protein change:

C113S

Links:

dbSNP: rs863223917

NCBI 1000 Genomes Browser:

rs863223917

Molecular consequence:

NM_001163813.2:c.-120+935G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001163814.2:c.-120+935G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001368275.1:c.-58+935G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001163812.2:c.338G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_021830.5:c.338G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_160738.1:n.1006G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160740.1:n.1006G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160741.1:n.1006G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160742.1:n.1006G>C - 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
SCV000251215	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jul 5, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000251215

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jul 5, 2016)

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, SCV000251215.11

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

Description

The C113S variant in the C10orf2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The C113S variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The C113S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret C113S as a variant of uncertain significance.

#	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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