NM_021830.5(TWNK):c.1414G>A (p.Asp472Asn) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 13, 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:: RCV000421084.1

Allele description [Variation Report for NM_021830.5(TWNK):c.1414G>A (p.Asp472Asn)]

NM_021830.5(TWNK):c.1414G>A (p.Asp472Asn)

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.1414G>A (p.Asp472Asn)

HGVS:

NC_000010.11:g.100989814G>A
NG_011646.1:g.2702C>T
NG_012624.1:g.7279G>A
NM_001163812.2:c.1414G>A
NM_001163813.2:c.52G>A
NM_001163814.2:c.52G>A
NM_001368275.1:c.52G>A
NM_021830.5:c.1414G>AMANE SELECT
NP_001157284.1:p.Asp472Asn
NP_001157285.1:p.Asp18Asn
NP_001157286.1:p.Asp18Asn
NP_001355204.1:p.Asp18Asn
NP_068602.2:p.Asp472Asn
NC_000010.10:g.102749571G>A
NM_021830.4:c.1414G>A
NR_160738.1:n.2082G>A
NR_160739.1:n.242G>A
NR_160740.1:n.2020G>A
NR_160741.1:n.2020G>A
NR_160742.1:n.2020G>A

Protein change:

D18N

Links:

dbSNP: rs1057523561

NCBI 1000 Genomes Browser:

rs1057523561

Molecular consequence:

NM_001163812.2:c.1414G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001163813.2:c.52G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001163814.2:c.52G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001368275.1:c.52G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_021830.5:c.1414G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_160738.1:n.2082G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160739.1:n.242G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160740.1:n.2020G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160741.1:n.2020G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160742.1:n.2020G>A - 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
SCV000532539	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Oct 13, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000532539

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Oct 13, 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, SCV000532539.4

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

Description

The D472N variant in the C10orf2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D472N 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 D472N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position where amino acids with similar properties to Aspartic Acid are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D472N 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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