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NM_001953.5(TYMP):c.146T>G (p.Leu49Arg) AND Mitochondrial DNA depletion syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 14, 2016
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:
RCV000208699.1

Allele description [Variation Report for NM_001953.5(TYMP):c.146T>G (p.Leu49Arg)]

NM_001953.5(TYMP):c.146T>G (p.Leu49Arg)

Gene:
TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_001953.5(TYMP):c.146T>G (p.Leu49Arg)
Other names:
Leu>Arg
HGVS:
  • NC_000022.11:g.50529564A>C
  • NG_011860.1:g.5522T>G
  • NG_016235.1:g.1876T>G
  • NM_001113755.3:c.146T>G
  • NM_001113756.3:c.146T>G
  • NM_001257988.1:c.146T>G
  • NM_001257989.1:c.146T>G
  • NM_001953.5:c.146T>GMANE SELECT
  • NP_001107227.1:p.Leu49Arg
  • NP_001107228.1:p.Leu49Arg
  • NP_001244917.1:p.Leu49Arg
  • NP_001244918.1:p.Leu49Arg
  • NP_001944.1:p.Leu49Arg
  • LRG_727t1:c.146T>G
  • LRG_727t2:c.146T>G
  • LRG_727:g.5522T>G
  • LRG_727p1:p.Leu49Arg
  • LRG_727p2:p.Leu49Arg
  • NC_000022.10:g.50967993A>C
  • NM_001953.4:c.146T>G
  • c.146T>G
Protein change:
L49R
Links:
dbSNP: rs1064792857
NCBI 1000 Genomes Browser:
rs1064792857
Molecular consequence:
  • NM_001113755.3:c.146T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001113756.3:c.146T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257988.1:c.146T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257989.1:c.146T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001953.5:c.146T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial DNA depletion syndrome 1
Synonyms:
POLIP SYNDROME; POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011283; MedGen: C4551995; Orphanet: 298; OMIM: 603041

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264499GeneReviews
no assertion criteria provided
Pathogenic
(Jan 14, 2016) 		germlineliterature only

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

Garone C, Tadesse S, Hirano M.

Brain. 2011 Nov;134(Pt 11):3326-32. doi: 10.1093/brain/awr245. Epub 2011 Sep 20.

PubMed [citation]
PMID:
21933806
PMCID:
PMC3212717

Details of each submission

From GeneReviews, SCV000264499.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024