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

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 17, 2019
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:: RCV000855770.1

Allele description

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

Recent activity

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E3 ubiquitin-protein ligase Jade-2 isoform X1 [Mus musculus]
E3 ubiquitin-protein ligase Jade-2 isoform X1 [Mus musculus]
gi|568976348|ref|XP_006534531.1|

Protein
Mus musculus strain C57BL/6J skint 4 isoform b precursor (Skint4) mRNA, complete...
Mus musculus strain C57BL/6J skint 4 isoform b precursor (Skint4) mRNA, complete cds
gi|152206616|gb|EF494898.1|

Nucleotide
UI-HF-BM0-adk-a-07-0-UI.r2 NIH_MGC_38 Homo sapiens cDNA clone IMAGE:3061908 5', ...
UI-HF-BM0-adk-a-07-0-UI.r2 NIH_MGC_38 Homo sapiens cDNA clone IMAGE:3061908 5', mRNA sequence
gi|6926941|gnl|dbEST|3741253|gb|AW4 .1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000998985	Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 17, 2019)	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000998985

Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 17, 2019)

maternal

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 16, 2023

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