NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 3, 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:: RCV000419446.1

Allele description [Variation Report for NM_021830.5(TWNK):c.247C>T (p.Pro83Ser)]

NM_021830.5(TWNK):c.247C>T (p.Pro83Ser)

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.247C>T (p.Pro83Ser)

HGVS:

NC_000010.11:g.100988457C>T
NG_011646.1:g.4059G>A
NG_012624.1:g.5922C>T
NM_001163812.2:c.247C>T
NM_001163813.2:c.-120+844C>T
NM_001163814.2:c.-120+844C>T
NM_001368275.1:c.-58+844C>T
NM_021830.5:c.247C>TMANE SELECT
NP_001157284.1:p.Pro83Ser
NP_068602.2:p.Pro83Ser
NC_000010.10:g.102748214C>T
NM_021830.4:c.247C>T
NR_160738.1:n.915C>T
NR_160740.1:n.915C>T
NR_160741.1:n.915C>T
NR_160742.1:n.915C>T

Protein change:

P83S

Links:

dbSNP: rs386834147

NCBI 1000 Genomes Browser:

rs386834147

Molecular consequence:

NM_001163813.2:c.-120+844C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001163814.2:c.-120+844C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001368275.1:c.-58+844C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001163812.2:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_021830.5:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_160738.1:n.915C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160740.1:n.915C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160741.1:n.915C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160742.1:n.915C>T - 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
SCV000512430	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jan 3, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000512430

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jan 3, 2017)

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, SCV000512430.4

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

Description

The P83S variant in the C10orf2 gene has been reported previously in an affected individual with a neurodegenerative disorder suggestive of infantile-onset spinocerebellar ataxia who was compound heterozygous for the P83S variant and another missense variant (Hartley et al., 2012). The P83S variant was not observed in approximately 6,500 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 P83S 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 in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P83S 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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