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NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2017
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:
RCV000626989.2

Allele description [Variation Report for NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu)]

NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu)

Genes:
LOC129934096:ATAC-STARR-seq lymphoblastoid active region 16036 [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.65C>T (p.Pro22Leu)
HGVS:
  • NC_000002.12:g.73926975C>T
  • NG_008044.1:g.5150C>T
  • NM_001318859.2:c.65C>T
  • NM_001318860.2:c.-114C>T
  • NM_001318861.2:c.-200C>T
  • NM_001318862.2:c.-200C>T
  • NM_001318863.2:c.-114C>T
  • NM_080916.3:c.65C>TMANE SELECT
  • NM_080918.3:c.65C>T
  • NP_001305788.1:p.Pro22Leu
  • NP_550438.1:p.Pro22Leu
  • NP_550440.1:p.Pro22Leu
  • NC_000002.11:g.74154102C>T
  • NM_080916.2:c.65C>T
  • NR_134893.2:n.96C>T
  • NR_134894.2:n.96C>T
  • NR_134895.2:n.96C>T
  • NR_134896.2:n.96C>T
  • NR_134897.2:n.96C>T
  • NR_134898.2:n.96C>T
Protein change:
P22L
Links:
dbSNP: rs757962437
NCBI 1000 Genomes Browser:
rs757962437
Molecular consequence:
  • NM_001318860.2:c.-114C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001318861.2:c.-200C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001318862.2:c.-200C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001318863.2:c.-114C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001318859.2:c.65C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080916.3:c.65C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080918.3:c.65C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134893.2:n.96C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134894.2:n.96C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134895.2:n.96C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134896.2:n.96C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134897.2:n.96C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_134898.2:n.96C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cognitive impairment
Identifiers:
MedGen: C0338656; Human Phenotype Ontology: HP:0100543
Name:
Cerebral atrophy
Identifiers:
MedGen: C0235946; Human Phenotype Ontology: HP:0002059
Name:
Memory impairment
Identifiers:
MedGen: C0233794; Human Phenotype Ontology: HP:0002354
Name:
Hypoplasia of the corpus callosum
Synonyms:
Corpus callosum hypoplasia
Identifiers:
MedGen: C0344482; Human Phenotype Ontology: HP:0002079
Name:
Migraine with aura
Identifiers:
MONDO: MONDO:0005475; MedGen: C0154723; Human Phenotype Ontology: HP:0002077
Name:
Increased CSF lactate
Identifiers:
MedGen: C1167918; Human Phenotype Ontology: HP:0002490
Name:
Increased serum pyruvate
Identifiers:
MedGen: C1849488; Human Phenotype Ontology: HP:0003542

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747692Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 1, 2017) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747692.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024