NM_080916.1(DGUOK):c.763_766dupGATT (p.Phe256Terfs) AND Mitochondrial DNA-depletion syndrome 3, hepatocerebral

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2002)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000008633.3

Allele description [Variation Report for NM_080916.1(DGUOK):c.763_766dupGATT (p.Phe256Terfs)]

NM_080916.1(DGUOK):c.763_766dupGATT (p.Phe256Terfs)

Genes:
DGUOK-AS1:DGUOK antisense RNA 1 [Gene - HGNC]
DGUOK:deoxyguanosine kinase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p13.1
Genomic location:
Preferred name:
NM_080916.1(DGUOK):c.763_766dupGATT (p.Phe256Terfs)
HGVS:
  • NC_000002.12:g.73958201_73958204dupGATT
  • NG_008044.1:g.36376_36379dup
  • NM_080916.1:c.763_766dupGATT
  • NM_080916.2:c.763_766dupGATT
  • NP_550438.1:p.Phe256Terfs
  • NC_000002.11:g.74185328_74185331dupGATT
Links:
OMIM: 601465.0003; dbSNP: rs763706988
NCBI 1000 Genomes Browser:
rs763706988
Molecular consequence:
  • NM_080916.2:c.763_766dupGATT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Mitochondrial DNA-depletion syndrome 3, hepatocerebral (MTDPS3)
Identifiers:
MedGen: C3151513; Orphanet: 279934; OMIM: 251880

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028842OMIMno assertion criteria providedPathogenic
(Sep 1, 2002)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mitochondrial DNA depletion and dGK gene mutations.

Salviati L, Sacconi S, Mancuso M, Otaegui D, CamaƱo P, Marina A, Rabinowitz S, Shiffman R, Thompson K, Wilson CM, Feigenbaum A, Naini AB, Hirano M, Bonilla E, DiMauro S, Vu TH.

Ann Neurol. 2002 Sep;52(3):311-7.

PubMed [citation]
PMID:
12205643

Details of each submission

From OMIM, SCV000028842.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with mitochondrial DNA depletion syndrome-3 (MTDPS3; 251880), Salviati et al. (2002) identified a homozygous 4-bp duplication (GATT) at nucleotide 763 in the DGUOK gene, resulting in a frameshift and premature termination of the protein. The patient presented at 2 months of age with poor feeding, hypotonia, nystagmus, metabolic acidosis, hepatomegaly, and elevated liver enzymes. She died at 5 months of age. Both parents and an unaffected sister were heterozygous for the mutation.

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

Last Updated: Apr 17, 2019

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