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

Clinical significance:Likely pathogenic (Last evaluated: Jul 17, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000855770.1

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]

Condition(s)

Name:
Perrault syndrome 5 (PRLTS5)
Identifiers:
MONDO: MONDO:0014504; MedGen: C4015307; Orphanet: 2855; OMIM: 616138

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000998985Laboratory of Inherited Metabolic Diseases, Research centre for medical geneticscriteria provided, single submitter
Likely pathogenic
(Jul 17, 2019)
maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Description

found in compound heterozygous with c.1523A>G (p.Y508C)

SCV000998985

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics, SCV000998985.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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