NM_021830.5(TWNK):c.737A>G (p.Asn246Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 24, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000727648.1

Allele description [Variation Report for NM_021830.5(TWNK):c.737A>G (p.Asn246Ser)]

NM_021830.5(TWNK):c.737A>G (p.Asn246Ser)

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.737A>G (p.Asn246Ser)
Other names:
p.N246S:AAT>AGT
HGVS:
  • NC_000010.11:g.100988947A>G
  • NG_011646.1:g.3569T>C
  • NG_012624.1:g.6412A>G
  • NM_001163812.2:c.737A>G
  • NM_001163813.2:c.-119-697A>G
  • NM_001163814.2:c.-119-697A>G
  • NM_001368275.1:c.-57-759A>G
  • NM_021830.5:c.737A>GMANE SELECT
  • NP_001157284.1:p.Asn246Ser
  • NP_068602.2:p.Asn246Ser
  • NC_000010.10:g.102748704A>G
  • NM_021830.4:c.737A>G
  • NR_160738.1:n.1405A>G
  • NR_160740.1:n.1405A>G
  • NR_160741.1:n.1405A>G
  • NR_160742.1:n.1405A>G
  • p.Asn246Ser
Protein change:
N246S
Links:
dbSNP: rs754081544
NCBI 1000 Genomes Browser:
rs754081544
Molecular consequence:
  • NM_001163813.2:c.-119-697A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163814.2:c.-119-697A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368275.1:c.-57-759A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163812.2:c.737A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021830.5:c.737A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160738.1:n.1405A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160740.1:n.1405A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160741.1:n.1405A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160742.1:n.1405A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000854942EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jul 24, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000854942.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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