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NM_080916.3(DGUOK):c.352C>T (p.Arg118Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 22, 2021
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:
RCV002541190.2

Allele description [Variation Report for NM_080916.3(DGUOK):c.352C>T (p.Arg118Cys)]

NM_080916.3(DGUOK):c.352C>T (p.Arg118Cys)

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.352C>T (p.Arg118Cys)
HGVS:
  • NC_000002.12:g.73946815C>T
  • NG_008044.1:g.24990C>T
  • NM_001318859.2:c.352C>T
  • NM_001318860.2:c.61C>T
  • NM_001318861.2:c.61C>T
  • NM_001318862.2:c.61C>T
  • NM_001318863.2:c.61C>T
  • NM_080916.1:c.352C>T
  • NM_080916.3:c.352C>TMANE SELECT
  • NM_080918.3:c.352C>T
  • NP_001305788.1:p.Arg118Cys
  • NP_001305789.1:p.Arg21Cys
  • NP_001305790.1:p.Arg21Cys
  • NP_001305791.1:p.Arg21Cys
  • NP_001305792.1:p.Arg21Cys
  • NP_550438.1:p.Arg118Cys
  • NP_550440.1:p.Arg118Cys
  • NC_000002.11:g.74173942C>T
  • NM_080916.2:c.352C>T
  • NR_134893.2:n.270C>T
  • NR_134894.2:n.270C>T
  • NR_134896.2:n.270C>T
  • NR_134897.2:n.356C>T
  • NR_134898.2:n.270C>T
Protein change:
R118C
Links:
dbSNP: rs767604650
NCBI 1000 Genomes Browser:
rs767604650
Molecular consequence:
  • NM_001318859.2:c.352C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318860.2:c.61C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318861.2:c.61C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318862.2:c.61C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318863.2:c.61C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080916.3:c.352C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080918.3:c.352C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134893.2:n.270C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134894.2:n.270C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134896.2:n.270C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134897.2:n.356C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134898.2:n.270C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003562198Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 22, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003562198.2

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

Description

The c.352C>T (p.R118C) alteration is located in exon 3 (coding exon 3) of the DGUOK gene. This alteration results from a C to T substitution at nucleotide position 352, causing the arginine (R) at amino acid position 118 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024