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NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) AND Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 26, 2018
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:
RCV000779334.4

Allele description [Variation Report for NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)]

NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)

Gene:
DGUOK:deoxyguanosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.1
Genomic location:
Preferred name:
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)
HGVS:
  • NC_000002.12:g.73938978C>G
  • NG_008044.1:g.17153C>G
  • NM_001318859.2:c.211C>G
  • NM_001318860.2:c.-36-7741C>G
  • NM_001318861.2:c.-37+6295C>G
  • NM_001318862.2:c.-37+6295C>G
  • NM_001318863.2:c.-36-7741C>G
  • NM_080916.3:c.211C>GMANE SELECT
  • NM_080918.3:c.211C>G
  • NP_001305788.1:p.Pro71Ala
  • NP_550438.1:p.Pro71Ala
  • NP_550440.1:p.Pro71Ala
  • NC_000002.11:g.74166105C>G
  • NM_080916.1:c.211C>G
  • NM_080916.2:c.211C>G
Protein change:
P71A
Links:
dbSNP: rs184770596
NCBI 1000 Genomes Browser:
rs184770596
Molecular consequence:
  • NM_001318860.2:c.-36-7741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318861.2:c.-37+6295C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318862.2:c.-37+6295C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318863.2:c.-36-7741C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318859.2:c.211C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080916.3:c.211C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080918.3:c.211C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Synonyms:
Mitochondrial DNA-depletion syndrome 3, hepatocerebral; Mitochondrial DNA depletion syndrome 3; Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Identifiers:
MONDO: MONDO:0009636; MedGen: C5191055; Orphanet: 279934; OMIM: 251880

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000915926Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)		Uncertain significance
(Jul 26, 2018) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Clinical whole exome sequencing in child neurology practice.

Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A.

Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30.

PubMed [citation]
PMID:
25131622

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000915926.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The DGUOK c.211C>G (p.Pro71Ala) variant is a missense variant that has been reported in a homozygous state in one individual with mitochondrial DNA depletion syndrome, type 3 (Srivastava et al. 2014). Control data are unavailable for this variant, which is reported at a frequency of 0.014019 in the Iberian population of the 1000 Genomes Project. The evidence for this variant is limited. The p.Pro71Ala variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for mitochondrial DNA depletion syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Oct 13, 2024