NM_021830.5(TWNK):c.198dup (p.His67fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 16, 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:: RCV000484985.1

Allele description [Variation Report for NM_021830.5(TWNK):c.198dup (p.His67fs)]

NM_021830.5(TWNK):c.198dup (p.His67fs)

Gene:

TWNK:twinkle mtDNA helicase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

10q24.31

Genomic location:

Preferred name:

NM_021830.5(TWNK):c.198dup (p.His67fs)

HGVS:

NC_000010.11:g.100988408dup
NG_011646.1:g.4112dup
NG_012624.1:g.5873dup
NM_001163812.2:c.198dup
NM_001163813.2:c.-120+795dup
NM_001163814.2:c.-120+795dup
NM_001368275.1:c.-58+795dup
NM_021830.5:c.198dupMANE SELECT
NP_001157284.1:p.His67fs
NP_068602.2:p.His67fs
NC_000010.10:g.102748165dup
NM_021830.4:c.198dupG
NR_160738.1:n.866dup
NR_160740.1:n.866dup
NR_160741.1:n.866dup
NR_160742.1:n.866dup

Protein change:

H67fs

Links:

dbSNP: rs1554886713

NCBI 1000 Genomes Browser:

rs1554886713

Molecular consequence:

NM_001163812.2:c.198dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_021830.5:c.198dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001163813.2:c.-120+795dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001163814.2:c.-120+795dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001368275.1:c.-58+795dup - intron variant - [Sequence Ontology: SO:0001627]
NR_160738.1:n.866dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160740.1:n.866dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160741.1:n.866dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160742.1:n.866dup - 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
SCV000572579	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Jan 16, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000572579

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Jan 16, 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, SCV000572579.4

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

Description

The c.198dupG variant in the C10orf2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.198dupG variant causes a frameshift starting with codon Histidine 67, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 39 of the new reading frame, denoted p.His67AlafsX39. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.198dupG 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. We interpret c.198dupG as a likely pathogenic variant.

#	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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