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NM_021830.5(TWNK):c.548C>G (p.Thr183Ser) AND TWNK-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 20, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004538676.2

Allele description [Variation Report for NM_021830.5(TWNK):c.548C>G (p.Thr183Ser)]

NM_021830.5(TWNK):c.548C>G (p.Thr183Ser)

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.548C>G (p.Thr183Ser)
HGVS:
  • NC_000010.11:g.100988758C>G
  • NG_011646.1:g.3758G>C
  • NG_012624.1:g.6223C>G
  • NM_001163812.2:c.548C>G
  • NM_001163813.2:c.-119-886C>G
  • NM_001163814.2:c.-119-886C>G
  • NM_001368275.1:c.-57-948C>G
  • NM_021830.4:c.548C>G
  • NM_021830.5:c.548C>GMANE SELECT
  • NP_001157284.1:p.Thr183Ser
  • NP_068602.2:p.Thr183Ser
  • NC_000010.10:g.102748515C>G
  • NR_160738.1:n.1216C>G
  • NR_160740.1:n.1216C>G
  • NR_160741.1:n.1216C>G
  • NR_160742.1:n.1216C>G
Protein change:
T183S
Links:
dbSNP: rs755275071
NCBI 1000 Genomes Browser:
rs755275071
Molecular consequence:
  • NM_001163813.2:c.-119-886C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163814.2:c.-119-886C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368275.1:c.-57-948C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163812.2:c.548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021830.5:c.548C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160738.1:n.1216C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160740.1:n.1216C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160741.1:n.1216C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160742.1:n.1216C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
TWNK-related disorder
Synonyms:
TWNK-related condition
Identifiers:

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004715790PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Feb 20, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004715790.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The TWNK c.548C>G variant is predicted to result in the amino acid substitution p.Thr183Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024