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NM_080916.3(DGUOK):c.736C>T (p.Pro246Ser) AND DGUOK-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 6, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003954749.2

Allele description [Variation Report for NM_080916.3(DGUOK):c.736C>T (p.Pro246Ser)]

NM_080916.3(DGUOK):c.736C>T (p.Pro246Ser)

Genes:
DGUOK-AS1:DGUOK antisense RNA 1 [Gene - HGNC]
DGUOK:deoxyguanosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.1
Genomic location:
Preferred name:
NM_080916.3(DGUOK):c.736C>T (p.Pro246Ser)
HGVS:
  • NC_000002.12:g.73958174C>T
  • NG_008044.1:g.36349C>T
  • NM_001318859.2:c.454C>T
  • NM_001318860.2:c.445C>T
  • NM_001318861.2:c.445C>T
  • NM_001318862.2:c.427C>T
  • NM_001318863.2:c.427C>T
  • NM_080916.3:c.736C>TMANE SELECT
  • NM_080918.3:c.472C>T
  • NP_001305788.1:p.Pro152Ser
  • NP_001305789.1:p.Pro149Ser
  • NP_001305790.1:p.Pro149Ser
  • NP_001305791.1:p.Pro143Ser
  • NP_001305792.1:p.Pro143Ser
  • NP_550438.1:p.Pro246Ser
  • NP_550440.1:p.Pro158Ser
  • NC_000002.11:g.74185301C>T
  • NM_080916.2:c.736C>T
  • NR_104029.1:n.365G>A
  • NR_104030.1:n.339G>A
  • NR_134893.2:n.390C>T
  • NR_134894.2:n.538C>T
  • NR_134895.2:n.202C>T
  • NR_134896.2:n.372C>T
  • NR_134897.2:n.582C>T
  • NR_134898.2:n.506C>T
Protein change:
P143S
Molecular consequence:
  • NM_001318859.2:c.454C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318860.2:c.445C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318861.2:c.445C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318862.2:c.427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318863.2:c.427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080916.3:c.736C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080918.3:c.472C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104029.1:n.365G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104030.1:n.339G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134893.2:n.390C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134894.2:n.538C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134895.2:n.202C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134896.2:n.372C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134897.2:n.582C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134898.2:n.506C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
DGUOK-related disorder
Synonyms:
DGUOK-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004775141PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Dec 6, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004775141.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The DGUOK c.736C>T variant is predicted to result in the amino acid substitution p.Pro246Ser. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Alternative variant at the same codon (p.Pro246Arg) has been reported together with second DGUOK variant in patient with mitochondrial DNA depletion syndrome (Sarzi et al. 2007. PubMed ID: 17452231). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 13, 2024